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Variant : CV556206 (GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1) Homo sapiens

Symbol: CV556206
Name: GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1
Condition: not provided [RCV000684497]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2017
Review Status: no assertion criteria provided
Related Genes: AP1B1   ASCC2   CABP7   CASTOR1   CCDC157   EMID1   EWSR1   GAL3ST1   GAS2L1   HORMAD2   LIF   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSM   PES1   RASL10A   RFPL1   RFPL1S   RHBDD3   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SF3A1   SLC35E4   TBC1D10A   TCN2   THOC5   UQCR10   ZMAT5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372229,644,625 - 31,051,719CLINVAR
Cytogenetic Map2222q12.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13798794
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-29
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.