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Variant : CV32623 (NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)) Homo sapiens

Symbol: CV32623
Name: NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
Condition: Adenocarcinoma of lung [RCV000439589]|Adenocarcinoma of stomach [RCV000423249]|Adrenocortical Carcinoma [RCV000432939]|Adrenocortical carcinoma [RCV000432939]|Hepatocellular carcinoma [RCV000443851]|Lung adenocarcinoma [RCV000439589]|Malignant melanoma of skin [RCV000434538]|Malignant neoplasm of body of uterus [RCV000433938]|Medulloblastoma [RCV000443977]|Ovarian Neoplasms [RCV000426491]|Pilomatricoma, somatic [RCV000019149]|Pilomatrixoma [RCV000019149]|Squamous cell carcinoma of the head and neck [RCV000422250]
Clinical Significance: pathogenic|likely pathogenic|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.41224613G>A
NC_000003.11:g.41266104G>A
NP_001895.1:p.Gly34Glu
P35222:p.Gly34Glu
NG_013302.2:g.30163G>A
p.G34E
NM_001098209.2:c.101G>A
NM_001098210.2:c.101G>A
NM_001904.4:c.101G>A
NM_001330729.2:c.80G>A
NP_001317658.1:p.Gly27Glu
NP_001091679.1:p.Gly34Glu
NP_001091680.1:p.Gly34Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,613 - 41,224,613CLINVAR
GRCh37341,266,104 - 41,266,104CLINVAR
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|adult|all ages
Prevalence: 1-9 / 1 000 000|1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600638
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.