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Variant : CV74232 (GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3) Homo sapiens

Symbol: CV74232
Name: GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3
Condition: Abnormality of the heart [RCV000053484]|See cases [RCV000053484]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: BLK   C8orf74   CLDN23   CTSB   ERI1   FAM167A   FDFT1   GATA4   MFHAS1   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TDH   TNKS   XKR6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8273108)_(11948451_?)dup
NC_000008.10:g.(?_8130630)_(11805960_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,273,108 - 11,948,451CLINVAR
GRCh3788,130,630 - 11,805,960CLINVAR
Cytogenetic Map88p23.1CLINVAR




Additional Information

 
RGD Object Information
RGD ID: 8620418
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.