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Variant : CV380734 (GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3) Homo sapiens

Symbol: CV380734
Name: GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3
Condition: See cases [RCV000445711]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ATP10A   CYFIP1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   GOLGA6L6   HERC2   IPW   MAGEL2   MKRN3   NDN   NIPA1   NIPA2   NPAP1   OCA2   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)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371520,733,395 - 28,406,650CLINVAR
Cytogenetic Map1515q11.2-13.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850445
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.