ClinVar

GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1

Genes:

• ATP10A:ATPase phospholipid transporting 10A (putative) [Gene - OMIM - HGNC]
• HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]
• NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
• NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
• OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]
• PWAR1:Prader Willi/Angelman region RNA 1 [Gene - OMIM - HGNC]
• PWAR4:Prader Willi/Angelman region RNA 4 [Gene - HGNC]
• PWAR5:Prader Willi/Angelman region RNA 5 [Gene - OMIM - HGNC]
• PWAR6:Prader Willi/Angelman region RNA 6 [Gene - HGNC]
• PWARSN:Prader Willi/Angelman region RNA, SNRPN neighbor [Gene - HGNC]
• PWRN1:Prader-Willi region non-protein coding RNA 1 [Gene - OMIM - HGNC]
• PWRN2:Prader-Willi region non-protein coding RNA 2 [Gene - OMIM - HGNC]
• SNURF:SNRPN upstream open reading frame [Gene - HGNC]
• CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
• GABRA5:gamma-aminobutyric acid type A receptor subunit alpha5 [Gene - OMIM - HGNC]
• GABRB3:gamma-aminobutyric acid type A receptor subunit beta3 [Gene - OMIM - HGNC]
• GABRG3:gamma-aminobutyric acid type A receptor subunit gamma3 [Gene - OMIM - HGNC]
• GOLGA6L2:golgin A6 family like 2 [Gene - HGNC]
• IPW:imprinted in Prader-Willi syndrome [Gene - OMIM - HGNC]
• MKRN3:makorin ring finger protein 3 [Gene - OMIM - HGNC]
• NDN:necdin, MAGE family member [Gene - OMIM - HGNC]
• NPAP1:nuclear pore associated protein 1 [Gene - OMIM - HGNC]
• SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
• SNORD115-1:small nucleolar RNA, C/D box 115-1 [Gene - OMIM - HGNC]
• SNORD116-1:small nucleolar RNA, C/D box 116-1 [Gene - OMIM - HGNC]
• TUBGCP5:tubulin gamma complex associated protein 5 [Gene - OMIM - HGNC]
• UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

15q11.2-13.1

Genomic location:

Chr15: 22770421 - 28828168 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1

HGVS:

NC_000015.9:g.(?_22770421)_(28828168_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13650536; dbVar: nsv2778726

Observations:

1