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GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 25, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000139889.7

Allele description [Variation Report for GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1]

GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1

Genes:
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • AKT3-IT1:AKT3 intronic transcript 1 [Gene - HGNC]
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • LOC129932891:ATAC-STARR-seq lymphoblastoid active region 2830 [Gene]
  • LOC129932892:ATAC-STARR-seq lymphoblastoid active region 2831 [Gene]
  • LOC129932894:ATAC-STARR-seq lymphoblastoid active region 2832 [Gene]
  • LOC129932896:ATAC-STARR-seq lymphoblastoid active region 2833 [Gene]
  • LOC129932897:ATAC-STARR-seq lymphoblastoid active region 2836 [Gene]
  • LOC129932898:ATAC-STARR-seq lymphoblastoid active region 2837 [Gene]
  • LOC129932899:ATAC-STARR-seq lymphoblastoid active region 2838 [Gene]
  • LOC129932900:ATAC-STARR-seq lymphoblastoid active region 2839 [Gene]
  • LOC129932904:ATAC-STARR-seq lymphoblastoid active region 2840 [Gene]
  • LOC129932905:ATAC-STARR-seq lymphoblastoid active region 2841 [Gene]
  • LOC129932907:ATAC-STARR-seq lymphoblastoid active region 2844 [Gene]
  • LOC129932908:ATAC-STARR-seq lymphoblastoid active region 2845 [Gene]
  • LOC129932910:ATAC-STARR-seq lymphoblastoid active region 2846 [Gene]
  • LOC129932915:ATAC-STARR-seq lymphoblastoid active region 2848 [Gene]
  • LOC129932921:ATAC-STARR-seq lymphoblastoid active region 2849 [Gene]
  • LOC129932923:ATAC-STARR-seq lymphoblastoid active region 2850 [Gene]
  • LOC129932924:ATAC-STARR-seq lymphoblastoid active region 2851 [Gene]
  • LOC129932925:ATAC-STARR-seq lymphoblastoid active region 2852 [Gene]
  • LOC129932927:ATAC-STARR-seq lymphoblastoid active region 2853 [Gene]
  • LOC129932930:ATAC-STARR-seq lymphoblastoid active region 2855 [Gene]
  • LOC129932931:ATAC-STARR-seq lymphoblastoid active region 2856 [Gene]
  • LOC129932932:ATAC-STARR-seq lymphoblastoid active region 2857 [Gene]
  • LOC129932933:ATAC-STARR-seq lymphoblastoid active region 2858 [Gene]
  • LOC129932934:ATAC-STARR-seq lymphoblastoid active region 2859 [Gene]
  • LOC129932938:ATAC-STARR-seq lymphoblastoid active region 2860 [Gene]
  • LOC129932940:ATAC-STARR-seq lymphoblastoid active region 2861 [Gene]
  • LOC129932941:ATAC-STARR-seq lymphoblastoid active region 2862 [Gene]
  • LOC129932943:ATAC-STARR-seq lymphoblastoid active region 2863 [Gene]
  • LOC129932944:ATAC-STARR-seq lymphoblastoid active region 2864 [Gene]
  • LOC129932945:ATAC-STARR-seq lymphoblastoid active region 2865 [Gene]
  • LOC129932949:ATAC-STARR-seq lymphoblastoid active region 2866 [Gene]
  • LOC129932951:ATAC-STARR-seq lymphoblastoid active region 2867 [Gene]
  • LOC129932952:ATAC-STARR-seq lymphoblastoid active region 2868 [Gene]
  • LOC129932953:ATAC-STARR-seq lymphoblastoid active region 2869 [Gene]
  • LOC129932954:ATAC-STARR-seq lymphoblastoid active region 2870 [Gene]
  • LOC129932955:ATAC-STARR-seq lymphoblastoid active region 2871 [Gene]
  • LOC129932956:ATAC-STARR-seq lymphoblastoid active region 2872 [Gene]
  • LOC129932957:ATAC-STARR-seq lymphoblastoid active region 2873 [Gene]
  • LOC129932959:ATAC-STARR-seq lymphoblastoid active region 2874 [Gene]
  • LOC129932961:ATAC-STARR-seq lymphoblastoid active region 2875 [Gene]
  • LOC129932962:ATAC-STARR-seq lymphoblastoid active region 2880 [Gene]
  • LOC129932963:ATAC-STARR-seq lymphoblastoid active region 2881 [Gene]
  • LOC129932964:ATAC-STARR-seq lymphoblastoid active region 2882 [Gene]
  • LOC129932965:ATAC-STARR-seq lymphoblastoid active region 2883 [Gene]
  • LOC129932966:ATAC-STARR-seq lymphoblastoid active region 2884 [Gene]
  • LOC129932968:ATAC-STARR-seq lymphoblastoid active region 2885 [Gene]
  • LOC129932969:ATAC-STARR-seq lymphoblastoid active region 2886 [Gene]
  • LOC129932970:ATAC-STARR-seq lymphoblastoid active region 2887 [Gene]
  • LOC129932893:ATAC-STARR-seq lymphoblastoid silent region 2011 [Gene]
  • LOC129932895:ATAC-STARR-seq lymphoblastoid silent region 2012 [Gene]
  • LOC129932901:ATAC-STARR-seq lymphoblastoid silent region 2013 [Gene]
  • LOC129932902:ATAC-STARR-seq lymphoblastoid silent region 2014 [Gene]
  • LOC129932903:ATAC-STARR-seq lymphoblastoid silent region 2015 [Gene]
  • LOC129932906:ATAC-STARR-seq lymphoblastoid silent region 2016 [Gene]
  • LOC129932909:ATAC-STARR-seq lymphoblastoid silent region 2017 [Gene]
  • LOC129932911:ATAC-STARR-seq lymphoblastoid silent region 2018 [Gene]
  • LOC129932912:ATAC-STARR-seq lymphoblastoid silent region 2019 [Gene]
  • LOC129932913:ATAC-STARR-seq lymphoblastoid silent region 2020 [Gene]
  • LOC129932914:ATAC-STARR-seq lymphoblastoid silent region 2022 [Gene]
  • LOC129932916:ATAC-STARR-seq lymphoblastoid silent region 2023 [Gene]
  • LOC129932917:ATAC-STARR-seq lymphoblastoid silent region 2024 [Gene]
  • LOC129932918:ATAC-STARR-seq lymphoblastoid silent region 2025 [Gene]
  • LOC129932919:ATAC-STARR-seq lymphoblastoid silent region 2026 [Gene]
  • LOC129932920:ATAC-STARR-seq lymphoblastoid silent region 2027 [Gene]
  • LOC129932922:ATAC-STARR-seq lymphoblastoid silent region 2029 [Gene]
  • LOC129932926:ATAC-STARR-seq lymphoblastoid silent region 2030 [Gene]
  • LOC129932928:ATAC-STARR-seq lymphoblastoid silent region 2031 [Gene]
  • LOC129932929:ATAC-STARR-seq lymphoblastoid silent region 2034 [Gene]
  • LOC129932935:ATAC-STARR-seq lymphoblastoid silent region 2035 [Gene]
  • LOC129932936:ATAC-STARR-seq lymphoblastoid silent region 2036 [Gene]
  • LOC129932937:ATAC-STARR-seq lymphoblastoid silent region 2037 [Gene]
  • LOC129932939:ATAC-STARR-seq lymphoblastoid silent region 2038 [Gene]
  • LOC129932942:ATAC-STARR-seq lymphoblastoid silent region 2039 [Gene]
  • LOC129932946:ATAC-STARR-seq lymphoblastoid silent region 2040 [Gene]
  • LOC129932947:ATAC-STARR-seq lymphoblastoid silent region 2041 [Gene]
  • LOC129932948:ATAC-STARR-seq lymphoblastoid silent region 2044 [Gene]
  • LOC129932950:ATAC-STARR-seq lymphoblastoid silent region 2047 [Gene]
  • LOC129932958:ATAC-STARR-seq lymphoblastoid silent region 2048 [Gene]
  • LOC129932960:ATAC-STARR-seq lymphoblastoid silent region 2049 [Gene]
  • LOC129932967:ATAC-STARR-seq lymphoblastoid silent region 2051 [Gene]
  • LOC129932971:ATAC-STARR-seq lymphoblastoid silent region 2053 [Gene]
  • LOC129932972:ATAC-STARR-seq lymphoblastoid silent region 2056 [Gene]
  • LOC126806071:BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 [Gene]
  • LOC126806074:BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 [Gene]
  • LOC126806076:BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 [Gene]
  • LOC126806079:BRD4-independent group 4 enhancer GRCh37_chr1:245376557-245377756 [Gene]
  • LOC126806080:BRD4-independent group 4 enhancer GRCh37_chr1:245630817-245632016 [Gene]
  • LOC126806086:BRD4-independent group 4 enhancer GRCh37_chr1:246939407-246940606 [Gene]
  • LOC126806087:BRD4-independent group 4 enhancer GRCh37_chr1:247367171-247368370 [Gene]
  • LOC126806088:BRD4-independent group 4 enhancer GRCh37_chr1:248349804-248351003 [Gene]
  • LOC126806078:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245248413-245249612 [Gene]
  • LOC126806081:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245746285-245747484 [Gene]
  • LOC126806082:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246032999-246034198 [Gene]
  • LOC126806085:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246810364-246811563 [Gene]
  • LOC126806089:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:249096844-249098043 [Gene]
  • LOC128635607:CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS10 [Gene]
  • LOC128635606:CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS8 [Gene]
  • LOC128598893:CRISPRi-validated SMYD3 hub enhancer [Gene]
  • LOC128598894:CRISPRi-validated SMYD3 non-hub enhancer [Gene]
  • LOC115804254:CRISPRi-validated cis-regulatory element chr1.12967 [Gene]
  • LOC115804255:CRISPRi-validated cis-regulatory element chr1.12988 [Gene]
  • LOC115804256:CRISPRi-validated cis-regulatory element chr1.12989 [Gene]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • GCSAML-AS1:GCSAML antisense RNA 1 [Gene - HGNC]
  • KIF26B-AS1:KIF26B antisense RNA 1 [Gene - HGNC]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
  • LOC126806073:MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 [Gene]
  • LOC126806075:MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 [Gene]
  • LOC126806077:MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 [Gene]
  • LOC126806084:MED14-independent group 3 enhancer GRCh37_chr1:246797385-246798584 [Gene]
  • LOC129388799:MPRA-validated peak4110 silencer [Gene]
  • LOC129388800:MPRA-validated peak807 silencer [Gene]
  • LOC129388801:MPRA-validated peak808 silencer [Gene]
  • LOC129388802:MPRA-validated peak809 silencer [Gene]
  • LOC129388803:MPRA-validated peak812 silencer [Gene]
  • LOC129388804:MPRA-validated peak817 silencer [Gene]
  • LOC129388805:MPRA-validated peak819 silencer [Gene]
  • LOC129388806:MPRA-validated peak823 silencer [Gene]
  • LOC129388807:MPRA-validated peak824 silencer [Gene]
  • LOC129388808:MPRA-validated peak825 silencer [Gene]
  • LOC129388809:MPRA-validated peak826 silencer [Gene]
  • LOC129388810:MPRA-validated peak835 silencer [Gene]
  • LOC129388811:MPRA-validated peak836 silencer [Gene]
  • LOC129388812:MPRA-validated peak838 silencer [Gene]
  • LOC129388813:MPRA-validated peak839 silencer [Gene]
  • NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
  • LOC126806072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 [Gene]
  • LOC126806083:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:246302792-246303991 [Gene]
  • LOC126806090:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:249114909-249116108 [Gene]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SH3BP5L:SH3 binding domain protein 5 like [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SMYD3-AS1:SMYD3 antisense RNA 1 [Gene - HGNC]
  • LOC112577567:Sharpr-MPRA regulatory region 11618 [Gene]
  • LOC122152357:Sharpr-MPRA regulatory region 1181 [Gene]
  • LOC112577568:Sharpr-MPRA regulatory region 11854 [Gene]
  • LOC122152355:Sharpr-MPRA regulatory region 12100 [Gene]
  • LOC112577566:Sharpr-MPRA regulatory region 14056 [Gene]
  • LOC122152353:Sharpr-MPRA regulatory region 1428 [Gene]
  • LOC120947224:Sharpr-MPRA regulatory region 15017 [Gene]
  • LOC122152360:Sharpr-MPRA regulatory region 1744 [Gene]
  • LOC122152354:Sharpr-MPRA regulatory region 3339 [Gene]
  • LOC122152362:Sharpr-MPRA regulatory region 4184 [Gene]
  • LOC122152356:Sharpr-MPRA regulatory region 4643 [Gene]
  • LOC122152352:Sharpr-MPRA regulatory region 5448 [Gene]
  • LOC122152358:Sharpr-MPRA regulatory region 5824 [Gene]
  • LOC112577569:Sharpr-MPRA regulatory region 5917 [Gene]
  • LOC122152359:Sharpr-MPRA regulatory region 7964 [Gene]
  • LOC122152351:Sharpr-MPRA regulatory region 8354 [Gene]
  • LOC122152350:Sharpr-MPRA regulatory region 9224 [Gene]
  • LOC122152361:Sharpr-MPRA regulatory region 9626 [Gene]
  • LOC111828504:Sharpr-MPRA regulatory regions 872 and 4511 [Gene]
  • LOC110121251:VISTA enhancer hs2070 [Gene]
  • LOC110120698:VISTA enhancer hs545 [Gene]
  • ZNF496-DT:ZNF496 divergent transcript [Gene - HGNC]
  • ZNF670-ZNF695:ZNF670-ZNF695 readthrough (NMD candidate) [Gene - HGNC]
  • ZNF692-DT:ZNF692 divergent transcript [Gene - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • C1orf202:chromosome 1 open reading frame 202 [Gene - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • LINC01341:long intergenic non-protein coding RNA 1341 [Gene - HGNC]
  • LINC01347:long intergenic non-protein coding RNA 1347 [Gene - HGNC]
  • LINC01743:long intergenic non-protein coding RNA 1743 [Gene - HGNC]
  • LINC02774:long intergenic non-protein coding RNA 2774 [Gene - HGNC]
  • LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
  • MIR3124:microRNA 3124 [Gene - HGNC]
  • MIR3916:microRNA 3916 [Gene - HGNC]
  • MIR4677:microRNA 4677 [Gene - HGNC]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14A2:olfactory receptor family 14 subfamily A member 2 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - OMIM - HGNC]
  • OR14K1:olfactory receptor family 14 subfamily K member 1 [Gene - HGNC]
  • OR14L1:olfactory receptor family 14 subfamily L member 1 [Gene - HGNC]
  • OR2AJ1:olfactory receptor family 2 subfamily AJ member 1 [Gene - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
  • OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
  • OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
  • OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T11:olfactory receptor family 2 subfamily T member 11 [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T7:olfactory receptor family 2 subfamily T member 7 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • OR9H1P:olfactory receptor family 9 subfamily H member 1 pseudogene [Gene - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • PGBD2:piggyBac transposable element derived 2 [Gene - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - HGNC]
  • SNORA100:small nucleolar RNA, H/ACA box 100 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • TRE-CTC2-1:tRNA-Glu (anticodon CTC) 2-1 [Gene - HGNC]
  • TRL-CAA4-1:tRNA-Leu (anticodon CAA) 4-1 [Gene - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
  • LOC101928068:uncharacterized LOC101928068 [Gene]
  • LOC102724446:uncharacterized LOC102724446 [Gene]
  • FLJ39095:uncharacterized LOC400812 [Gene]
  • LOC440742:uncharacterized LOC440742 [Gene]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF672:zinc finger protein 672 [Gene - HGNC]
  • ZNF692:zinc finger protein 692 [Gene - OMIM - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q43-44
Genomic location:
Preferred name:
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1
HGVS:
  • NC_000001.11:g.(?_242045279)_(248930485_?)del
  • NC_000001.10:g.(?_242208581)_(249224684_?)del
  • NC_000001.9:g.(?_240275204)_(247191307_?)del
Links:
dbVar: nssv1608240; dbVar: nsv931015
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000180515ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 25, 2013) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000180515.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024