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Variant : CV163926 (GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1) Homo sapiens

Symbol: CV163926
Name: GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1
Condition: See cases [RCV000142284]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL8B   BHLHE40   BHLHE40-AS1   CAV3   CHL1   CHL1-AS1   CHL1-AS2   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CRBN   EDEM1   EGOT   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   IL5RA   ITPR1   ITPR1-DT   LINC00312   LINC01266   LINC01986   LMCD1   LMCD1-AS1   LRRN1   MIR4790   OXTR   RAD18   SETMAR   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   TRNT1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_20213)_(9362037_?)del
Human AssemblyChrPosition (strand)Source
GRCh38320,213 - 9,362,037CLINVAR
GRCh37361,891 - 9,403,721CLINVAR
Build 36336,891 - 9,378,721CLINVAR
Cytogenetic Map33p26.3-25.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489803
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.