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Variant : CV673648 (GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3) Homo sapiens

Symbol: CV673648
Name: GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3
Condition: not provided [RCV000846764]
Clinical Significance: pathogenic
Last Evaluated: 07/27/2017
Review Status: no assertion criteria provided
Related Genes: BLK   C8orf74   CLDN23   CTSB   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FDFT1   GATA4   MFHAS1   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TNKS   XKR6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3788,093,065 - 11,945,856CLINVAR
Cytogenetic Map88p23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14977346
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-06-30
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.