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Variant : CV32616 (NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)) Homo sapiens

Symbol: CV32616
Name: NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
Condition: Adenocarcinoma of lung [RCV000444481]|Adenocarcinoma of prostate [RCV000418289]|Adenocarcinoma of stomach [RCV000430278]|Carcinoma of colon [RCV000019138]|Carcinoma of esophagus [RCV000423917]|Colorectal Neoplasms [RCV000443834]|Endometrial neoplasm [RCV000443472]|Hepatocellular carcinoma [RCV000426112]|Lung adenocarcinoma [RCV000444481]|Malignant melanoma of skin [RCV000434171]|Malignant neoplasm of body of uterus [RCV000435972]|Medulloblastoma [RCV000435233]|Neoplasm of the large intestine [RCV000443834]|Oesophageal carcinoma [RCV000423917]|Pancreatic adenocarcinoma [RCV000424968]|Pilomatricoma, somatic [RCV000019139]|Pilomatrixoma [RCV000019139]|Transitional cell carcinoma of the bladder [RCV000437025]
Clinical Significance: pathogenic|likely pathogenic|other
Last Evaluated: 05/31/2016
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NC_000003.12:g.41224610C>A
NC_000003.11:g.41266101C>A
NP_001895.1:p.Ser33Tyr
P35222:p.Ser33Tyr
NG_013302.2:g.30160C>A
NM_001330729.2:c.77C>A
NP_001317658.1:p.Ser26Tyr
NP_001091679.1:p.Ser33Tyr
NM_001098209.2:c.98C>A
NM_001098210.2:c.98C>A
NM_001904.4:c.98C>A
NP_001091680.1:p.Ser33Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,610 - 41,224,610CLINVAR
GRCh37341,266,101 - 41,266,101CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Colon cancer; Colon cancer, somatic; Colonic carcinoma; Colorectal cancer; Colorectal cancer, somatic; Colorectal Neoplasms; EPITHELIOMA CALCIFICANS OF MALHERBE; Esophageal carcinoma; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Large intestine tumor; Liver cancer; LIVER CELL CARCINOMA; Medulloblastoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Oesophageal carcinoma; Pilomatricoma, somatic; Primary carcinoma of liver; Rectal cancer, somatic; Transitional cell bladder carcinoma
Age Of Onset: adolescent|adult
Prevalence: 1-9 / 1 000 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600631
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.