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Variant : CV72334 (GRCh38/hg38 3p26.1-25.3(chr3:7400936-9450451)x1) Homo sapiens

Symbol: CV72334
Name: GRCh38/hg38 3p26.1-25.3(chr3:7400936-9450451)x1
Condition: See cases [RCV000051479]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CAV3   GRM7   GRM7-AS1   LINC00312   LMCD1   LMCD1-AS1   OXTR   RAD18   SETD5   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   THUMPD3   THUMPD3-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_7400936)_(9450451_?)del
NC_000003.11:g.(?_7442623)_(9492135_?)del
NC_000003.10:g.(?_7417623)_(9467135_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3837,400,936 - 9,450,451CLINVAR
GRCh3737,442,623 - 9,492,135CLINVAR
Build 3637,417,623 - 9,467,135CLINVAR
Cytogenetic Map33p26.1-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618494
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-26
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.