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Variant : CV437381 (GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1) Homo sapiens

Symbol: CV437381
Name: GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1
Condition: See cases [RCV000511817]
Clinical Significance: likely pathogenic
Last Evaluated: 08/12/2015
Review Status: no assertion criteria provided
Related Genes: ABHD17B   ALDH1A1   ANXA1   APBA1   BANCR   C9orf135   C9orf57   C9orf85   CEMIP2   FAM122A   FAM189A2   FXN   GDA   KLF9   MAMDC2   MIR204   PGM5   PIP5K1B   PRKACG   PTAR1   SMC5   TJP2   TMC1   TMEM252   TRPM3   ZFAND5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37971,079,379 - 75,905,808CLINVAR
Cytogenetic Map99q21.11-21.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444786
Created: 2017-11-07
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.