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Variant : CV383356 (GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1) Homo sapiens

Symbol: CV383356
Name: GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1
Condition: See cases [RCV000445807]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: APBA2   ARHGAP11B   ATP10A   CHRFAM7A   CHRNA7   FAM189A1   FAN1   GABRA5   GABRB3   GABRG3   GOLGA6L2   GOLGA8H   GOLGA8J   GOLGA8M   HERC2   IPW   KLF13   MAGEL2   MIR211   MKRN3   MTMR10   NDN   NPAP1   NSMCE3   OCA2   OTUD7A   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TJP1   TRPM1   UBE3A  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371523,282,829 - 32,446,830CLINVAR
Cytogenetic Map1515q11.2-13.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850540
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.