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Variant : CV32625 (NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)) Homo sapiens

Symbol: CV32625
Name: NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
Condition: Adenocarcinoma of lung [RCV000445320]|Adenocarcinoma of prostate [RCV000433883]|Adenocarcinoma of stomach [RCV000444520]|Carcinoma of esophagus [RCV000436738]|Cutaneous melanoma [RCV000442576]|Hepatocellular carcinoma [RCV000426489]|Lung adenocarcinoma [RCV000445320]|Malignant melanoma [RCV000442576]|Malignant neoplasm of body of uterus [RCV000425340]|Medulloblastoma [RCV000428583]|Oesophageal carcinoma [RCV000436738]|Ovarian Neoplasms [RCV000420061]|Pilomatricoma, somatic [RCV000019151]|Pilomatrixoma [RCV000019151]|Transitional cell carcinoma of the bladder [RCV000437726]|Uterine cervical neoplasms [RCV000427490]
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.41224622C>T
NC_000003.11:g.41266113C>T
NP_001895.1:p.Ser37Phe
NP_001091680.1:p.Ser37Phe
P35222:p.Ser37Phe
NG_013302.2:g.30172C>T
NM_001330729.2:c.89C>T
NP_001091679.1:p.Ser37Phe
NP_001317658.1:p.Ser30Phe
NM_001098209.2:c.110C>T
NM_001098210.2:c.110C>T
NM_001904.4:c.110C>T
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; Malignant melanoma, somatic; Medulloblastoma, somatic; Oesophageal carcinoma; 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: 8600639
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.