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Variant : CV32617 (NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)) Homo sapiens

Symbol: CV32617
Name: NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
Condition: Adenocarcinoma of prostate [RCV000433199]|Adenocarcinoma of stomach [RCV000443060]|Cutaneous melanoma [RCV000443883]|Hepatocellular carcinoma [RCV000437703]|Malignant melanoma [RCV000443883]|Malignant melanoma of skin [RCV000417687]|Malignant neoplasm of body of uterus [RCV000435333]|Medulloblastoma [RCV000427896]|Pilomatricoma, somatic [RCV000019140]|Pilomatrixoma [RCV000019140]|Transitional cell carcinoma of the bladder [RCV000425010]|Uterine cervical neoplasms [RCV000427454]|not provided [RCV000087199]
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.41224607A>G
NC_000003.11:g.41266098A>G
NP_001895.1:p.Asp32Gly
P35222:p.Asp32Gly
NG_013302.2:g.30157A>G
NM_001330729.2:c.74A>G
NM_001098209.2:c.95A>G
NM_001098210.2:c.95A>G
NM_001904.4:c.95A>G
NM_001904.3:c.95A>G
NP_001317658.1:p.Asp25Gly
NP_001091679.1:p.Asp32Gly
NP_001091680.1:p.Asp32Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,607 - 41,224,607CLINVAR
GRCh37341,266,098 - 41,266,098CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: EPITHELIOMA CALCIFICANS OF MALHERBE; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Malignant melanoma, somatic; Medulloblastoma, somatic; MELANOMA, MALIGNANT, SOMATIC; 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: 8600632
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.