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Variant : CV160361 (GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1) Homo sapiens

Symbol: CV160361
Name: GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1
Condition: See cases [RCV000139436]
Clinical Significance: likely pathogenic
Last Evaluated: 06/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHL1   CHL1-AS1   CHL1-AS2   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CRBN   IL5RA   LINC01266   TRNT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_32241)_(3355776_?)del
NC_000003.11:g.(?_73914)_(3397460_?)del
NC_000003.10:g.(?_48914)_(3372460_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38332,241 - 3,355,776CLINVAR
GRCh37373,914 - 3,397,460CLINVAR
Build 36348,914 - 3,372,460CLINVAR
Cytogenetic Map33p26.3-26.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486967
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.