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Variant : CV556195 (GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3) Homo sapiens

Symbol: CV556195
Name: GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3
Condition: not provided [RCV000684486]
Clinical Significance: likely pathogenic
Last Evaluated: 12/06/2017
Review Status: no assertion criteria provided
Related Genes: ACO2   CCDC134   CENPM   CSDC2   CYP2D6   DESI1   MEI1   MIR33A   NAGA   NDUFA6   PHETA2   PHF5A   PMM1   POLR3H   SEPTIN3   SHISA8   SMDT1   SNU13   SREBF2   TCF20   TNFRSF13C   WBP2NL   XRCC6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372241,849,322 - 42,756,616CLINVAR
Cytogenetic Map2222q13.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798722
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.