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Variant : CV159329 (GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1) Homo sapiens

Symbol: CV159329
Name: GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1
Condition: See cases [RCV000138575]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOD1   BORA   CLN5   COMMD6   DIS3   EDNRB   EDNRB-AS1   FBXL3   KCTD12   KLF12   KLF5   LINC00331   LINC00347   LINC00381   LINC00392   LINC00393   LINC00402   LINC00446   LINC00561   LINC01068   LINC01069   LINC01078   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   MIR3665   MYCBP2   MYCBP2-AS1   MZT1   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   PIBF1   POU4F1   RBM26   RBM26-AS1   SCEL   SCEL-AS1   SLAIN1   TBC1D4   UCHL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_72681540)_(79638468_?)del
NC_000013.10:g.(?_73255678)_(80212603_?)del
NC_000013.9:g.(?_72153679)_(79110604_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381372,681,540 - 79,638,468CLINVAR
GRCh371373,255,678 - 80,212,603CLINVAR
Build 361372,153,679 - 79,110,604CLINVAR
Cytogenetic Map1313q21.33-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486115
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.