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Variant : CV248035 (GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3) Homo sapiens

Symbol: CV248035
Name: GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3
Condition: See cases [RCV000240207]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ATP10A   CYFIP1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   IPW   MAGEL2   MKRN3   NDN   NIPA1   NIPA2   NPAP1   OR4M2   OR4N4   POTEB   POTEB2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371520,848,460 - 27,662,530CLINVAR
Cytogenetic Map1515q11.2-12CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541645
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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