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Variant : CV363112 (NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)) Homo sapiens

Symbol: CV363112
Name: NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
Condition: Adenocarcinoma of lung [RCV000430713]|Adenocarcinoma of stomach [RCV000418083]|Adrenocortical Carcinoma [RCV000438776]|Adrenocortical carcinoma [RCV000438776]|Craniopharyngioma [RCV000438184]|Hepatocellular carcinoma [RCV000420040]|Lung adenocarcinoma [RCV000430713]|Malignant melanoma of skin [RCV000427907]|Malignant neoplasm of body of uterus [RCV000436663]|Medulloblastoma [RCV000438599]|Pilomatrixoma [RCV000427501]|Squamous cell carcinoma of the head and neck [RCV000419419]
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): NG_013302.2:g.30162G>C
NC_000003.12:g.41224612G>C
NC_000003.11:g.41266103G>C
NP_001895.1:p.Gly34Arg
NM_001098209.2:c.100G>C
NM_001098210.2:c.100G>C
NM_001904.4:c.100G>C
NM_001330729.2:c.79G>C
NP_001317658.1:p.Gly27Arg
NP_001091679.1:p.Gly34Arg
NP_001091680.1:p.Gly34Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,612 - 41,224,612CLINVAR
GRCh37341,266,103 - 41,266,103CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adrenal carcinoma; Adrenal gland carinoma; EPITHELIOMA CALCIFICANS OF MALHERBE; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Liver cancer; LIVER CELL CARCINOMA; Medulloblastoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Pilomatricoma, somatic; Primary carcinoma of liver; Squamous cell carcinoma, head and neck, somatic
Age Of Onset: adolescent|all ages
Prevalence: 1-9 / 1 000 000|1-9 / 100 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834357
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.