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Variant : CV32615 (NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)) Homo sapiens

Symbol: CV32615
Name: NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)
Condition: Carcinoma of colon [RCV000019137]|Wilms Tumor [RCV000505566]
Clinical Significance: pathogenic|other
Last Evaluated: 05/01/2016
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing|literature only
HGVS Name(s): NP_001895.1:p.Ser45del
p.S45del
NM_001904.4:c.133_135del
NG_013302.2:g.30195_30197del
NM_001330729.2:c.112_114del
NM_001098209.2:c.133_135del
NC_000003.12:g.41224645_41224647del
NM_001904.3:c.133_135del
NM_001098210.2:c.133_135del
NP_001317658.1:p.Ser38del
NP_001091679.1:p.Ser45del
NP_001091680.1:p.Ser45del
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,645 - 41,224,647CLINVAR
GRCh37341,266,136 - 41,266,138CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Colon cancer; Colon cancer, somatic; Colonic carcinoma; Colorectal cancer; Colorectal cancer, somatic; Rectal cancer, somatic



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8555276
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.