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Variant : CV363273 (NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)) Homo sapiens

Symbol: CV363273
Name: NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
Condition: Adenocarcinoma of lung [RCV000430531]|Adenocarcinoma of prostate [RCV000420278]|Adrenocortical Carcinoma [RCV000422378]|Adrenocortical carcinoma [RCV000422378]|Colorectal Neoplasms [RCV000440036]|Hepatocellular carcinoma [RCV000435532]|Lung adenocarcinoma [RCV000430531]|Malignant melanoma of skin [RCV000417888]|Malignant neoplasm of body of uterus [RCV000428037]|Neoplasm of the large intestine [RCV000440036]|Pancreatic adenocarcinoma [RCV000437888]
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.101C>A
NM_001098209.2:c.122C>A
NM_001098210.2:c.122C>A
NM_001904.4:c.122C>A
NP_001317658.1:p.Thr34Asn
NP_001091679.1:p.Thr41Asn
NG_013302.2:g.30184C>A
NC_000003.12:g.41224634C>A
NC_000003.11:g.41266125C>A
NP_001895.1:p.Thr41Asn
NP_001091680.1:p.Thr41Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,634 - 41,224,634CLINVAR
GRCh37341,266,125 - 41,266,125CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adrenal carcinoma; Adrenal gland carinoma; Colorectal Neoplasms; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Large intestine tumor; Liver cancer; LIVER CELL CARCINOMA; MELANOMA, MALIGNANT, SOMATIC; Primary carcinoma of liver



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834344
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.