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Variant : CV32628 (NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)) Homo sapiens

Symbol: CV32628
Name: NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
Condition: Adenocarcinoma of lung [RCV000423471]|Adenocarcinoma of prostate [RCV000427866]|Adrenocortical Carcinoma [RCV000417674]|Adrenocortical carcinoma [RCV000417674]|Colorectal Neoplasms [RCV000439398]|Cutaneous melanoma [RCV000435313]|Disease [RCV000439866]|Hepatocellular carcinoma [RCV000019154]|Hepatocellular carcinoma, somatic [RCV000019154]|Lung adenocarcinoma [RCV000423471]|Malignant melanoma [RCV000435313]|Malignant melanoma of skin [RCV000428983]|Malignant neoplasm of body of uterus [RCV000422223]|Neoplasm of the large intestine [RCV000439398]|Transitional cell carcinoma of the bladder [RCV000441996]|not provided [RCV000087197]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|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.41224645T>C
NC_000003.11:g.41266136T>C
NP_001895.1:p.Ser45Pro
P35222:p.Ser45Pro
NG_013302.2:g.30195T>C
NM_001330729.2:c.112T>C
NM_001098209.2:c.133T>C
NM_001098210.2:c.133T>C
NM_001904.4:c.133T>C
NM_001904.3:c.133T>C
NP_001317658.1:p.Ser38Pro
NP_001091679.1:p.Ser45Pro
NP_001091680.1:p.Ser45Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,645 - 41,224,645CLINVAR
GRCh37341,266,136 - 41,266,136CLINVAR
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: 8600642
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.