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Variant : CV389094 (GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4) Homo sapiens

Symbol: CV389094
Name: GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4
Condition: See cases [RCV000454142]
Clinical Significance: pathogenic
Last Evaluated: 10/25/2016
Review Status: criteria provided, single submitter
Related Genes: APBA2   ATP10A   CHRFAM7A   CYFIP1   FAM189A1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   GOLGA6L6   GOLGA8J   GOLGA8M   HERC2   IPW   MAGEL2   MKRN3   NDN   NIPA1   NIPA2   NPAP1   NSMCE3   OCA2   OR4M2   OR4N4   POTEB   POTEB2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TJP1   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371520,071,673 - 30,737,344CLINVAR
Cytogenetic Map1515q11.1-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12858849
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-10-01
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.