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Variant : CV614016 (GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)) Homo sapiens

Symbol: CV614016
Name: GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)
Condition: Chromosome 15q11-q13 duplication syndrome [RCV000767720]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: APBA2   ARHGAP11B   ATP10A   CHRFAM7A   CHRNA7   CYFIP1   FAM189A1   FAN1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   GOLGA8H   GOLGA8J   GOLGA8M   HERC2   IPW   KLF13   MAGEL2   MIR211   MKRN3   MTMR10   NDN   NIPA1   NIPA2   NPAP1   NSMCE3   OCA2   OR4N4   OTUD7A   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TJP1   TRPM1   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371522,382,860 - 32,396,457CLINVAR
Cytogenetic Map1515q11.2-13.3CLINVAR
Trait Synonyms: 15q11.2-q13.1 Duplication Syndrome; DUPLICATION 15q11-q13 SYNDROME

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14399675
Created: 2019-05-07
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.