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Variant : CV363270 (NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)) Homo sapiens

Symbol: CV363270
Name: NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
Condition: Adenocarcinoma of lung [RCV000443305]|Adenocarcinoma of prostate [RCV000436119]|Adenocarcinoma of stomach [RCV000433600]|Carcinoma of esophagus [RCV000417825]|Colorectal Neoplasms [RCV000425263]|Hepatocellular carcinoma [RCV000435028]|Lung adenocarcinoma [RCV000443305]|Malignant melanoma of skin [RCV000426401]|Malignant neoplasm of body of uterus [RCV000418863]|Medulloblastoma [RCV000434673]|Neoplasm of the large intestine [RCV000425263]|Oesophageal carcinoma [RCV000417825]|Pancreatic adenocarcinoma [RCV000442478]|Transitional cell carcinoma of the bladder [RCV000426101]
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): NP_001317658.1:p.Ser26Pro
NP_001091679.1:p.Ser33Pro
NP_001091680.1:p.Ser33Pro
NG_013302.2:g.30159T>C
NC_000003.12:g.41224609T>C
NC_000003.11:g.41266100T>C
NP_001895.1:p.Ser33Pro
NM_001098209.2:c.97T>C
NM_001330729.2:c.76T>C
NM_001098210.2:c.97T>C
NM_001904.4:c.97T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,609 - 41,224,609CLINVAR
GRCh37341,266,100 - 41,266,100CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Colorectal Neoplasms; Esophageal carcinoma; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Large intestine tumor; Liver cancer; LIVER CELL CARCINOMA; Medulloblastoma, somatic; MELANOMA, MALIGNANT, SOMATIC; Oesophageal carcinoma; Primary carcinoma of liver; Transitional cell bladder carcinoma
Prevalence: 1-9 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834335
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.