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Variant : CV384177 (GRCh37/hg19 8p23.1(chr8:9144943-11945856)x3) Homo sapiens

Symbol: CV384177
Name: GRCh37/hg19 8p23.1(chr8:9144943-11945856)x3
Condition: See cases [RCV000448829]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BLK   C8orf74   CTSB   DEFB134   DEFB135   DEFB136   FAM167A   FDFT1   GATA4   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TNKS   XKR6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3789,144,943 - 11,945,856CLINVAR
Cytogenetic Map88p23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853529
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-07-07
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.