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Variant : CV363121 (NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)) Homo sapiens

Symbol: CV363121
Name: NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
Condition: Adenocarcinoma of lung [RCV000428312]|Adenocarcinoma of prostate [RCV000428521]|Adrenocortical Carcinoma [RCV000417615]|Adrenocortical carcinoma [RCV000417615]|Colorectal Neoplasms [RCV000437569]|Disease [RCV000422624]|Hepatocellular carcinoma [RCV000420360]|Lung adenocarcinoma [RCV000428312]|Malignant melanoma of skin [RCV000439152]|Malignant neoplasm of body of uterus [RCV000432444]|Neoplasm of the large intestine [RCV000437569]|Transitional cell carcinoma of the bladder [RCV000439811]
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.30196C>G
NC_000003.12:g.41224646C>G
NC_000003.11:g.41266137C>G
NP_001895.1:p.Ser45Cys
NM_001330729.2:c.113C>G
NM_001098209.2:c.134C>G
NM_001098210.2:c.134C>G
NM_001904.4:c.134C>G
NP_001317658.1:p.Ser38Cys
NP_001091679.1:p.Ser45Cys
NP_001091680.1:p.Ser45Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,646 - 41,224,646CLINVAR
GRCh37341,266,137 - 41,266,137CLINVAR
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; Transitional cell bladder carcinoma



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834310
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.