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Variant : CV157788 (GRCh38/hg38 3p26.1(chr3:4433667-4521002)x1) Homo sapiens

Symbol: CV157788
Name: GRCh38/hg38 3p26.1(chr3:4433667-4521002)x1
Condition: See cases [RCV000137127]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ITPR1   ITPR1-DT   SUMF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_4433667)_(4521002_?)del
NC_000003.11:g.(?_4475351)_(4562686_?)del
NC_000003.10:g.(?_4450351)_(4537686_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,433,667 - 4,521,002CLINVAR
GRCh3734,475,351 - 4,562,686CLINVAR
Build 3634,450,351 - 4,537,686CLINVAR
Cytogenetic Map33p26.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484686
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.