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Variant : CV154604 (GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1) Homo sapiens

Symbol: CV154604
Name: GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1
Condition: See cases [RCV000134257]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL8B   BHLHE40   BHLHE40-AS1   CHL1   CHL1-AS1   CHL1-AS2   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CRBN   EDEM1   EGOT   IL5RA   ITPR1   ITPR1-DT   LINC01266   LRRN1   MIR4790   SETMAR   SUMF1   TRNT1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_32241)_(5791120_?)del
Human AssemblyChrPosition (strand)Source
GRCh38332,241 - 5,791,120CLINVAR
GRCh37373,914 - 5,832,807CLINVAR
Build 36348,914 - 5,807,807CLINVAR
Cytogenetic Map33p26.3-26.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9481837
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.