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Variant : CV71906 (GRCh38/hg38 8p23.3(chr8:241530-1371695)x1) Homo sapiens

Symbol: CV71906
Name: GRCh38/hg38 8p23.3(chr8:241530-1371695)x1
Condition: See cases [RCV000050990]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC100797.4   AF067845.2   DLGAP2   ERICH1   FAM87A   FBXO25   LOC105377777   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(1371695_?)del
NC_000008.10:g.(?_191530)_(1319861_?)del
NC_000008.9:g.(?_181530)_(1307268_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 1,371,695CLINVAR
GRCh378191,530 - 1,319,861CLINVAR
Build 368181,530 - 1,307,268CLINVAR
Cytogenetic Map88p23.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618043
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.