ClinVar

GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1

Genes:

• ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
• ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
• FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
• OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
• OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
• OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
• PRDM9:PR/SET domain 9 [Gene - OMIM - HGNC]
• ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
• BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
• CDH12:cadherin 12 [Gene - OMIM - HGNC]
• CDH18:cadherin 18 [Gene - OMIM - HGNC]
• CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
• CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
• CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
• DAP:death associated protein [Gene - OMIM - HGNC]
• DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
• LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
• LINC02899:long intergenic non-protein coding RNA 2899 [Gene - HGNC]
• MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
• MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
• MYO10:myosin X [Gene - OMIM - HGNC]
• RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
• ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
• SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
• TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
• TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
• ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5p15.31-14.2

Genomic location:

Chr5: 9120813 - 24274030 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1

HGVS:

NC_000005.9:g.(?_9120813)_(24274030_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13647022; dbVar: nssv13647375; dbVar: nsv2774897

Observations:

2