ClinVar

GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1

Genes:

• CENPS-CORT:CENPS-CORT readthrough [Gene - HGNC]
• DFFA:DNA fragmentation factor subunit alpha [Gene - OMIM - HGNC]
• FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
• FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
• FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
• KIAA2013:KIAA2013 [Gene - HGNC]
• MASP2:MBL associated serine protease 2 [Gene - OMIM - HGNC]
• PRAMEF12:PRAME family member 12 [Gene - HGNC]
• TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
• TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
• TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
• UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
• ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
• AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
• AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
• AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
• CASZ1:castor zinc finger 1 [Gene - OMIM - HGNC]
• CENPS:centromere protein S [Gene - OMIM - HGNC]
• CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
• C1orf127:chromosome 1 open reading frame 127 [Gene - OMIM - HGNC]
• C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
• CFAP107:cilia and flagella associated protein 107 [Gene - HGNC]
• CORT:cortistatin [Gene - OMIM - HGNC]
• DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
• DISP3:dispatched RND transporter family member 3 [Gene - OMIM - HGNC]
• DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
• EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
• KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
• MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
• MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
• MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
• MFN2:mitofusin 2 [Gene - OMIM - HGNC]
• MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
• NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
• NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
• PEX14:peroxisomal biogenesis factor 14 [Gene - OMIM - HGNC]
• PGD:phosphogluconate dehydrogenase [Gene - OMIM - HGNC]
• PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
• SRM:spermidine synthase [Gene - OMIM - HGNC]
• VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p36.22-36.21

Genomic location:

Chr1: 10246640 - 12841900 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1

HGVS:

NC_000001.10:g.(?_10246640)_(12841900_?)del

This HGVS expression did not pass validation