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Variant : CV362933 (NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)) Homo sapiens

Symbol: CV362933
Name: NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
Condition: Adenocarcinoma of prostate [RCV000439366]|Adenocarcinoma of stomach [RCV000437131]|Cutaneous melanoma [RCV000429774]|Hepatocellular carcinoma [RCV000430427]|Malignant melanoma [RCV000429774]|Malignant melanoma of skin [RCV000440025]|Malignant neoplasm of body of uterus [RCV000419510]|Medulloblastoma [RCV000421744]|Transitional cell carcinoma of the bladder [RCV000429157]|Uterine cervical neoplasms [RCV000422380]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001330729.2:c.73G>C
NM_001098210.2:c.94G>C
NG_013302.2:g.30156G>C
NC_000003.12:g.41224606G>C
NC_000003.11:g.41266097G>C
NP_001895.1:p.Asp32His
NM_001098209.2:c.94G>C
NM_001904.4:c.94G>C
NP_001317658.1:p.Asp25His
NP_001091679.1:p.Asp32His
NP_001091680.1:p.Asp32His
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,606 - 41,224,606CLINVAR
GRCh37341,266,097 - 41,266,097CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Malignant melanoma, somatic; Medulloblastoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Primary carcinoma of liver; Transitional cell bladder carcinoma
Prevalence: 1-9 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834492
Created: 2017-04-11
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.