ClinVar

GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1

Genes:

• ARRDC3-AS1:ARRDC3 antisense RNA 1 [Gene - HGNC]
• GPR150:G protein-coupled receptor 150 [Gene - HGNC]
• KIAA0825:KIAA0825 [Gene - OMIM - HGNC]
• LIX1-AS1:LIX1 and RIOK2 antisense RNA 1 [Gene - HGNC]
• LYSMD3:LysM domain containing 3 [Gene - HGNC]
• MEF2C-AS1:MEF2C antisense RNA 1 [Gene - HGNC]
• NR2F1-AS1:NR2F1 antisense RNA 1 [Gene - HGNC]
• POU5F2:POU domain class 5, transcription factor 2 [Gene - HGNC]
• RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
• RGMB-AS1:RGMB antisense RNA 1 [Gene - HGNC]
• RIOK2:RIO kinase 2 [Gene - HGNC]
• POLR3G:RNA polymerase III subunit G [Gene - OMIM - HGNC]
• RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
• RFESD:Rieske Fe-S domain containing [Gene - HGNC]
• SLF1:SMC5-SMC6 complex localization factor 1 [Gene - HGNC]
• ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
• TMEM161B-AS1:TMEM161B antisense RNA 1 [Gene - HGNC]
• ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
• ARRDC3:arrestin domain containing 3 [Gene - OMIM - HGNC]
• ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
• CAST:calpastatin [Gene - OMIM - HGNC]
• CETN3:centrin 3 [Gene - OMIM - HGNC]
• CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
• CCNH:cyclin H [Gene - OMIM - HGNC]
• COX7C:cytochrome c oxidase subunit 7C [Gene - OMIM - HGNC]
• ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
• ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
• ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
• FAM172A:family with sequence similarity 172 member A [Gene - HGNC]
• FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
• FAM81B:family with sequence similarity 81 member B [Gene - HGNC]
• GLRX:glutaredoxin [Gene - OMIM - HGNC]
• LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
• LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
• LINC01339:long intergenic non-protein coding RNA 1339 [Gene - HGNC]
• LINC01340:long intergenic non-protein coding RNA 1340 [Gene - HGNC]
• LINC01554:long intergenic non-protein coding RNA 1554 [Gene - HGNC]
• LINC01846:long intergenic non-protein coding RNA 1846 [Gene - HGNC]
• LINC01949:long intergenic non-protein coding RNA 1949 [Gene - HGNC]
• LINC02059:long intergenic non-protein coding RNA 2059 [Gene - HGNC]
• LINC02060:long intergenic non-protein coding RNA 2060 [Gene - HGNC]
• LINC02062:long intergenic non-protein coding RNA 2062 [Gene - HGNC]
• LINC02113:long intergenic non-protein coding RNA 2113 [Gene - HGNC]
• LINC02144:long intergenic non-protein coding RNA 2144 [Gene - HGNC]
• LINC00461:long intergenic non-protein coding RNA 461 [Gene - OMIM - HGNC]
• LUCAT1:lung cancer associated transcript 1 (non-protein coding) [Gene - HGNC]
• MBLAC2:metallo-beta-lactamase domain containing 2 [Gene - HGNC]
• MIR2277:microRNA 2277 [Gene - HGNC]
• MIR3607:microRNA 3607 [Gene - HGNC]
• MIR3660:microRNA 3660 [Gene - HGNC]
• MIR4280:microRNA 4280 [Gene - HGNC]
• MIR548P:microRNA 548p [Gene - HGNC]
• MIR583:microRNA 583 [Gene - HGNC]
• MIR9-2:microRNA 9-2 [Gene - OMIM - HGNC]
• MCTP1:multiple C2 and transmembrane domain containing 1 [Gene - OMIM - HGNC]
• MEF2C:myocyte enhancer factor 2C [Gene - OMIM - HGNC]
• NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
• PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
• RGMB:repulsive guidance molecule family member b [Gene - OMIM - HGNC]
• SNORD138:small nucleolar RNA, C/D box 138 [Gene - HGNC]
• SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
• TTC37:tetratricopeptide repeat domain 37 [Gene - OMIM - HGNC]
• TMEM161B:transmembrane protein 161B [Gene - HGNC]
• LOC100289230:uncharacterized LOC100289230 [Gene]
• LOC101929380:uncharacterized LOC101929380 [Gene]
• LOC101929710:uncharacterized LOC101929710 [Gene]
• LOC644285:uncharacterized LOC644285 [Gene]
• LOC731157:uncharacterized LOC731157 [Gene]

Variant type:

copy number loss

Cytogenetic location:

5q14.3-21.1

Genomic location:

• Chr5: 85966055 - 101335711 (on Assembly GRCh38)
• Chr5: 85261873 - 100671415 (on Assembly GRCh37)
• Chr5: 85297629 - 100699314 (on Assembly NCBI36)

Preferred name:

GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1

HGVS:

• NC_000005.10:g.(?_85966055)_(101335711_?)del
• NC_000005.8:g.(?_85297629)_(100699314_?)del
• NC_000005.9:g.(?_85261873)_(100671415_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv578056; dbVar: nsv532154

Observations:

1