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Variant : CV381709 (GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1) Homo sapiens

Symbol: CV381709
Name: GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1
Condition: See cases [RCV000448264]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADIPOQ   AHSG   CRYGS   DGKG   DNAJB11   EIF4A2   ETV5   FETUB   HRG   IGF2BP2   KNG1   RFC4   SNORA63   SNORA81   TBCCD1   TRA2B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373185,419,048 - 186,575,415CLINVAR
Cytogenetic Map33q27.2-27.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12852974
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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