Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV32621 (NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)) Homo sapiens

Symbol: CV32621
Name: NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
Condition: Adenocarcinoma of lung [RCV000427137]|Adenocarcinoma of stomach [RCV000437867]|Adrenocortical Carcinoma [RCV000429363]|Adrenocortical carcinoma [RCV000429363]|Craniopharyngioma [RCV000425225]|Cutaneous melanoma [RCV000428985]|Hepatoblastoma [RCV000019146]|Hepatoblastoma, somatic [RCV000019146]|Hepatocellular carcinoma [RCV000435058]|Lung adenocarcinoma [RCV000427137]|Malignant melanoma [RCV000428985]|Malignant melanoma of skin [RCV000436574]|Malignant neoplasm of body of uterus [RCV000417805]|Malignant tumor of prostate [RCV000149120]|Medulloblastoma [RCV000418024]|Squamous cell carcinoma of the head and neck [RCV000418475]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance|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: literature only
HGVS Name(s): NC_000003.12:g.41224613G>T
NC_000003.11:g.41266104G>T
NP_001895.1:p.Gly34Val
P35222:p.Gly34Val
NG_013302.2:g.30163G>T
NP_001091679.1:p.Gly34Val
NP_001091680.1:p.Gly34Val
NM_001904.3:c.101G>T
NP_001317658.1:p.Gly27Val
NM_001098209.2:c.101G>T
NM_001098210.2:c.101G>T
NM_001904.4:c.101G>T
NM_001330729.2:c.80G>T
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; 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; Prostate cancer; Prostatic cancer; Squamous cell carcinoma, head and neck, somatic
Age Of Onset: adulthood|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: 8600636
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.