ClinVar

GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1

Genes:

• ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
• ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
• ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
• ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
• C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
• FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
• GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
• ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
• MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• MORN1:MORN repeat containing 1 [Gene - HGNC]
• NADK:NAD kinase [Gene - OMIM - HGNC]
• NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
• SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
• SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
• TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
• TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
• TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
• AGRN:agrin [Gene - OMIM - HGNC]
• ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
• AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
• B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
• CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
• CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
• C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
• CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
• CCNL2:cyclin L2 [Gene - OMIM - HGNC]
• CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
• CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
• DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
• FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
• GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
• HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
• HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
• INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
• KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
• MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
• MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
• MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
• MIR200A:microRNA 200a [Gene - OMIM - HGNC]
• MIR200B:microRNA 200b [Gene - OMIM - HGNC]
• MIR429:microRNA 429 [Gene - OMIM - HGNC]
• MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
• PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
• PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
• PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
• PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
• PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
• PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
• PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
• RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - OMIM - HGNC]
• RNF223:ring finger protein 223 [Gene - HGNC]
• SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
• SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
• SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
• SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
• SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
• TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
• TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
• TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
• TMEM52:transmembrane protein 52 [Gene - HGNC]
• TMEM88B:transmembrane protein 88B [Gene - HGNC]
• TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
• UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
• VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p36.33-36.32

Genomic location:

Chr1: 849466 - 2748837 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1

HGVS:

NC_000001.10:g.(?_849466)_(2748837_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13648971; dbVar: nsv2776423

Observations:

1