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Variant : CV32627 (NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)) Homo sapiens

Symbol: CV32627
Name: NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
Condition: Adenocarcinoma of lung [RCV000440570]|Adenocarcinoma of prostate [RCV000430307]|Adrenocortical Carcinoma [RCV000441643]|Adrenocortical carcinoma [RCV000441643]|Colorectal Neoplasms [RCV000429593]|Cutaneous melanoma [RCV000436327]|Disease [RCV000423935]|Hepatocellular carcinoma [RCV000019153]|Hepatocellular carcinoma, somatic [RCV000019153]|Lung adenocarcinoma [RCV000440570]|Malignant melanoma [RCV000436327]|Malignant melanoma of skin [RCV000429678]|Malignant neoplasm of body of uterus [RCV000418669]|Neoplasm of the large intestine [RCV000429593]|Transitional cell carcinoma of the bladder [RCV000422910]|Wilms Tumor [RCV000505673]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|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: clinical testing|literature only
HGVS Name(s): NC_000003.12:g.41224646C>T
NC_000003.11:g.41266137C>T
NP_001895.1:p.Ser45Phe
NP_001091680.1:p.Ser45Phe
P35222:p.Ser45Phe
NG_013302.2:g.30196C>T
NM_001330729.2:c.113C>T
NM_001098209.2:c.134C>T
NM_001098210.2:c.134C>T
NM_001904.4:c.134C>T
p.S45F
NP_001317658.1:p.Ser38Phe
NP_001091679.1:p.Ser45Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,646 - 41,224,646CLINVAR
GRCh37341,266,137 - 41,266,137CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adrenal carcinoma; Adrenal gland carinoma; Colorectal Neoplasms; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Large intestine tumor; Liver cancer; LIVER CELL CARCINOMA; Malignant melanoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Primary carcinoma of liver; Transitional cell bladder carcinoma
Age Of Onset: variable
Prevalence: 1-5 / 10 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600641
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.