ClinVar

GRCh37/hg19 17p13.3(chr17:525-981413)x1

Genes:

• ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
• TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
• VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
• DOC2B:double C2 domain beta [Gene - OMIM - HGNC]
• GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
• GLOD4:glyoxalase domain containing 4 [Gene - HGNC]
• LIAT1:ligand of ATE1 [Gene - HGNC]
• MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
• NXN:nucleoredoxin [Gene - OMIM - HGNC]
• RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
• RFLNB:refilin B [Gene - OMIM - HGNC]
• TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p13.3

Genomic location:

Chr17: 525 - 981413 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.3(chr17:525-981413)x1

HGVS:

NC_000017.10:g.(?_525)_(981413_?)del

This HGVS expression did not pass validation