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Variant : CV32618 (NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)) Homo sapiens

Symbol: CV32618
Name: NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
Condition: Adenocarcinoma of lung [RCV000432924]|Adenocarcinoma of prostate [RCV000441696]|Adenocarcinoma of stomach [RCV000438791]|Carcinoma of esophagus [RCV000422240]|Hepatocellular carcinoma [RCV000423597]|Lung adenocarcinoma [RCV000432924]|Malignant neoplasm of body of uterus [RCV000421574]|Medulloblastoma [RCV000431366]|Neoplasm of ovary [RCV000019141]|Oesophageal carcinoma [RCV000422240]|Ovarian Neoplasms [RCV000444056]|Pilomatricoma, somatic [RCV000030945]|Pilomatrixoma [RCV000030945]|Transitional cell carcinoma of the bladder [RCV000445258]|Uterine cervical neoplasms [RCV000430788]|not provided [RCV000087195]
Clinical Significance: pathogenic|likely pathogenic|other
Last Evaluated: 05/31/2016
Review Status: classified by multiple submitters|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|not provided
HGVS Name(s): NC_000003.12:g.41224622C>G
NC_000003.11:g.41266113C>G
NP_001895.1:p.Ser37Cys
P35222:p.Ser37Cys
NG_013302.2:g.30172C>G
NM_001098209.2:c.110C>G
NM_001098210.2:c.110C>G
NM_001904.4:c.110C>G
NM_001330729.2:c.89C>G
NP_001317658.1:p.Ser30Cys
NP_001091679.1:p.Ser37Cys
NP_001091680.1:p.Ser37Cys
NM_001904.3:c.110C>G
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; EPITHELIOMA CALCIFICANS OF MALHERBE; Esophageal carcinoma; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Medulloblastoma, somatic; Neoplasm of the ovaries; Neoplasm of the ovary; Oesophageal carcinoma; Ovarian cancer; OVARIAN CANCER, SOMATIC; Ovarian neoplasia; Ovarian neoplasm; Ovarian tumor; Pilomatricoma, somatic; Primary carcinoma of liver; 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: 8600633
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.