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Variant : CV554721 (GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1) Homo sapiens

Symbol: CV554721
Name: GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1
Condition: not provided [RCV000683026]
Clinical Significance: pathogenic
Last Evaluated: 09/08/2017
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 loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3788,093,169 - 11,898,980CLINVAR
Cytogenetic Map88p23.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795969
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.