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Variant : CV363271 (NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)) Homo sapiens

Symbol: CV363271
Name: NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
Condition: Adenocarcinoma of lung [RCV000428518]|Adenocarcinoma of prostate [RCV000443586]|Adenocarcinoma of stomach [RCV000439171]|Carcinoma of esophagus [RCV000440476]|Colorectal Neoplasms [RCV000423241]|Hepatocellular carcinoma [RCV000441600]|Lung adenocarcinoma [RCV000428518]|Malignant melanoma of skin [RCV000433324]|Malignant neoplasm of body of uterus [RCV000430905]|Medulloblastoma [RCV000424341]|Neoplasm of the large intestine [RCV000423241]|Oesophageal carcinoma [RCV000440476]|Pancreatic adenocarcinoma [RCV000433966]|Transitional cell carcinoma of the bladder [RCV000420132]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001098210.2:c.97T>G
NG_013302.2:g.30159T>G
NC_000003.12:g.41224609T>G
NC_000003.11:g.41266100T>G
NP_001895.1:p.Ser33Ala
NM_001330729.2:c.76T>G
NM_001098209.2:c.97T>G
NM_001904.4:c.97T>G
NP_001317658.1:p.Ser26Ala
NP_001091679.1:p.Ser33Ala
NP_001091680.1:p.Ser33Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,609 - 41,224,609CLINVAR
GRCh37341,266,100 - 41,266,100CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Colorectal Neoplasms; 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; Primary carcinoma of liver; Transitional cell bladder carcinoma
Prevalence: 1-9 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834542
Created: 2017-04-11
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.