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Variant : CV383919 (GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1) Homo sapiens

Symbol: CV383919
Name: GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1
Condition: See cases [RCV000448229]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACOD1   ATXN8OS   BORA   CLN5   COMMD6   DACH1   DIS3   EDNRB   FBXL3   KCTD12   KLF12   KLF5   KLHL1   LINC00402   LMO7   LMO7DN   MYCBP2   MZT1   NDFIP2   OBI1   PCDH20   PCDH9   PIBF1   POU4F1   RBM26   SCEL   SLAIN1   SPRY2   TBC1D4   UCHL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371361,686,543 - 83,302,092CLINVAR
Cytogenetic Map1313q21.2-31.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852939
Created: 2017-04-11
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.