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Variant : CV363114 (NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)) Homo sapiens

Symbol: CV363114
Name: NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
Condition: Adenocarcinoma of lung [RCV000444358]|Adenocarcinoma of prostate [RCV000419658]|Adenocarcinoma of stomach [RCV000430355]|Carcinoma of esophagus [RCV000436705]|Hepatocellular carcinoma [RCV000424491]|Lung adenocarcinoma [RCV000444358]|Malignant neoplasm of body of uterus [RCV000435198]|Medulloblastoma [RCV000430984]|Neoplasm of the parathyroid gland [RCV000435831]|Oesophageal carcinoma [RCV000436705]|Parathyroid gland neoplasm [RCV000435831]|Transitional cell carcinoma of the bladder [RCV000426018]|Uterine cervical neoplasms [RCV000419464]
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.109T>G
NG_013302.2:g.30171T>G
NC_000003.12:g.41224621T>G
NC_000003.11:g.41266112T>G
NP_001895.1:p.Ser37Ala
NM_001098209.2:c.109T>G
NM_001904.4:c.109T>G
NM_001330729.2:c.88T>G
NP_001317658.1:p.Ser30Ala
NP_001091679.1:p.Ser37Ala
NP_001091680.1:p.Ser37Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,621 - 41,224,621CLINVAR
GRCh37341,266,112 - 41,266,112CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Esophageal carcinoma; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Medulloblastoma, somatic; Oesophageal carcinoma; Parathyroid gland neoplasm; Parathyroid neoplasia; 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: 12834485
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.