ClinVar

GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3

Genes:

• MYBBP1A:MYB binding protein 1a [Gene - OMIM - HGNC]
• ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
• CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
• GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
• SMTNL2:smoothelin like 2 [Gene - HGNC]
• SPNS2:sphingolipid transporter 2 [Gene - OMIM - HGNC]
• SPNS3:sphingolipid transporter 3 (putative) [Gene - OMIM - HGNC]
• UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
• ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17p13.2

Genomic location:

Chr17: 3995902 - 4511207 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3

HGVS:

This HGVS expression did not pass validation