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Variant : CV383808 (GRCh37/hg19 2q13(chr2:111366255-113132395)x3) Homo sapiens

Symbol: CV383808
Name: GRCh37/hg19 2q13(chr2:111366255-113132395)x3
Condition: See cases [RCV000449085]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACOXL   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   RGPD8   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372111,366,255 - 113,132,395CLINVAR
Cytogenetic Map22q13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853783
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-23
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.