ClinVar

GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)

Genes:

• HTR3C:5-hydroxytryptamine receptor 3C [Gene - OMIM - HGNC]
• HTR3D:5-hydroxytryptamine receptor 3D [Gene - OMIM - HGNC]
• HTR3E:5-hydroxytryptamine receptor 3E [Gene - OMIM - HGNC]
• ALG3:ALG3 alpha-1,3- mannosyltransferase [Gene - OMIM - HGNC]
• ABCC5:ATP binding cassette subfamily C member 5 [Gene - OMIM - HGNC]
• ABCF3:ATP binding cassette subfamily F member 3 [Gene - OMIM - HGNC]
• DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
• EPHB3:EPH receptor B3 [Gene - OMIM - HGNC]
• ETV5:ETS variant transcription factor 5 [Gene - OMIM - HGNC]
• MAGEF1:MAGE family member F1 [Gene - OMIM - HGNC]
• MAP6D1:MAP6 domain containing 1 [Gene - OMIM - HGNC]
• POLR2H:RNA polymerase II, I and III subunit H [Gene - OMIM - HGNC]
• ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
• SENP2:SUMO specific peptidase 2 [Gene - OMIM - HGNC]
• TBCCD1:TBCC domain containing 1 [Gene - OMIM - HGNC]
• VPS8:VPS8 subunit of CORVET complex [Gene - OMIM - HGNC]
• YEATS2:YEATS domain containing 2 [Gene - OMIM - HGNC]
• AP2M1:adaptor related protein complex 2 subunit mu 1 [Gene - OMIM - HGNC]
• ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
• AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
• CAMK2N2:calcium/calmodulin dependent protein kinase II inhibitor 2 [Gene - OMIM - HGNC]
• CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
• CHRD:chordin [Gene - OMIM - HGNC]
• C3orf70:chromosome 3 open reading frame 70 [Gene - HGNC]
• CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
• DGKG:diacylglycerol kinase gamma [Gene - OMIM - HGNC]
• DVL3:dishevelled segment polarity protein 3 [Gene - OMIM - HGNC]
• ECE2:endothelin converting enzyme 2 [Gene - OMIM - HGNC]
• EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
• EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]
• EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]
• EIF4A2:eukaryotic translation initiation factor 4A2 [Gene - OMIM - HGNC]
• FAM131A:family with sequence similarity 131 member A [Gene - HGNC]
• FETUB:fetuin B [Gene - OMIM - HGNC]
• HRG:histidine rich glycoprotein [Gene - OMIM - HGNC]
• IGF2BP2:insulin like growth factor 2 mRNA binding protein 2 [Gene - OMIM - HGNC]
• KLHL24:kelch like family member 24 [Gene - OMIM - HGNC]
• KLHL6:kelch like family member 6 [Gene - OMIM - HGNC]
• KNG1:kininogen 1 [Gene - OMIM - HGNC]
• LIPH:lipase H [Gene - OMIM - HGNC]
• MIR1224:microRNA 1224 [Gene - OMIM - HGNC]
• MAP3K13:mitogen-activated protein kinase kinase kinase 13 [Gene - OMIM - HGNC]
• PARL:presenilin associated rhomboid like [Gene - OMIM - HGNC]
• PSMD2:proteasome 26S subunit ubiquitin receptor, non-ATPase 2 [Gene - OMIM - HGNC]
• RFC4:replication factor C subunit 4 [Gene - OMIM - HGNC]
• SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
• SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]
• THPO:thrombopoietin [Gene - OMIM - HGNC]
• TRA2B:transformer 2 beta homolog [Gene - OMIM - HGNC]
• TMEM41A:transmembrane protein 41A [Gene - HGNC]
• VWA5B2:von Willebrand factor A domain containing 5B2 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3q27.1-27.3

Genomic location:

Chr3: 183178932 - 186838042 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)

HGVS:

NC_000003.11:g.(?_183178932)_(186838042_?)del

This HGVS expression did not pass validation

Observations:

1