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Variant : CV362774 (NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)) Homo sapiens

Symbol: CV362774
Name: NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
Condition: Adenocarcinoma of lung [RCV000417587]|Adenocarcinoma of prostate [RCV000424917]|Adrenocortical Carcinoma [RCV000434843]|Adrenocortical carcinoma [RCV000434843]|Colorectal Neoplasms [RCV000442079]|Cutaneous melanoma [RCV000422850]|Hepatocellular carcinoma [RCV000444787]|Lung adenocarcinoma [RCV000417587]|Malignant melanoma [RCV000422850]|Malignant melanoma of skin [RCV000427426]|Malignant neoplasm of body of uterus [RCV000435197]|Neoplasm of the large intestine [RCV000442079]|Transitional cell carcinoma of the bladder [RCV000437572]
Clinical Significance: pathogenic|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.113C>A
NM_001098209.2:c.134C>A
NM_001098210.2:c.134C>A
NM_001904.4:c.134C>A
NP_001317658.1:p.Ser38Tyr
NG_013302.2:g.30196C>A
NC_000003.12:g.41224646C>A
NC_000003.11:g.41266137C>A
NP_001895.1:p.Ser45Tyr
NP_001091679.1:p.Ser45Tyr
NP_001091680.1:p.Ser45Tyr
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; Malignant melanoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Primary carcinoma of liver; Transitional cell bladder carcinoma



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834306
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.