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Variant : CV362773 (NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)) Homo sapiens

Symbol: CV362773
Name: NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
Condition: Adenocarcinoma of lung [RCV000432982]|Adenocarcinoma of prostate [RCV000441059]|Adenocarcinoma of stomach [RCV000420492]|Carcinoma of esophagus [RCV000441660]|Cutaneous melanoma [RCV000419361]|Hepatocellular carcinoma [RCV000421620]|Lung adenocarcinoma [RCV000432982]|Malignant melanoma [RCV000419361]|Malignant neoplasm of body of uterus [RCV000431858]|Medulloblastoma [RCV000420998]|Neoplasm of stomach [RCV000430785]|Oesophageal carcinoma [RCV000441660]|Transitional cell carcinoma of the bladder [RCV000438660]|Uterine cervical neoplasms [RCV000429634]
Clinical Significance: pathogenic|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_001904.4:c.110C>A
NM_001330729.2:c.89C>A
NP_001317658.1:p.Ser30Tyr
NP_001091679.1:p.Ser37Tyr
NP_001091680.1:p.Ser37Tyr
NG_013302.2:g.30172C>A
NC_000003.12:g.41224622C>A
NC_000003.11:g.41266113C>A
NP_001895.1:p.Ser37Tyr
NM_001098209.2:c.110C>A
NM_001098210.2:c.110C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,622 - 41,224,622CLINVAR
GRCh37341,266,113 - 41,266,113CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Esophageal carcinoma; Gastric cancer; Gastric cancer, somatic; Increased gastric cancer; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Malignant melanoma, somatic; Medulloblastoma, somatic; Neoplasia of the stomach; Neoplasm of the stomach; Oesophageal carcinoma; Primary carcinoma of liver; Stomach tumor; Transitional cell bladder carcinoma
Prevalence: 1-9 / 1 000 000|gastric cancer is the 4th most frequently diagnosed cancer and the 2nd leading cause of death from cancer, with an estimated 990000 new cases and 738000 deaths registered.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834478
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.