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Variant : CV216095 (GRCh37/hg19 2q13(chr2:111398336-113101220)x1) Homo sapiens

Symbol: CV216095
Name: GRCh37/hg19 2q13(chr2:111398336-113101220)x1
Condition: See cases [RCV000203446]
Clinical Significance: pathogenic
Last Evaluated: 10/21/2015
Review Status: criteria provided, single submitter
Related Genes: ACOXL   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372111,398,336 - 113,101,220CLINVAR
Cytogenetic Map22q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10766523
Created: 2016-02-09
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.