ClinVar

GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1

Genes:

• AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
• B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
• GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
• GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
• ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
• ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
• EPN2:epsin 2 [Gene - OMIM - HGNC]
• FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
• MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
• MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
• PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
• RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
• SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
• SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
• SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
• SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]
• SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
• ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p11.2

Genomic location:

Chr17: 18746987 - 20231379 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1

HGVS:

NC_000017.10:g.(?_18746987)_(20231379_?)del

This HGVS expression did not pass validation