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Variant : CV32626 (NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)) Homo sapiens

Symbol: CV32626
Name: NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
Condition: Adenocarcinoma of lung [RCV000436836]|Adenocarcinoma of prostate [RCV000422057]|Adrenocortical Carcinoma [RCV000442251]|Adrenocortical carcinoma [RCV000442251]|Colorectal Neoplasms [RCV000432291]|Hepatocellular carcinoma [RCV000442963]|Lung adenocarcinoma [RCV000436836]|Malignant melanoma of skin [RCV000443038]|Malignant neoplasm of body of uterus [RCV000426659]|Neoplasm of the large intestine [RCV000432291]|Pancreatic adenocarcinoma [RCV000427656]|Pilomatricoma, somatic [RCV000019152]|Pilomatrixoma [RCV000019152]
Clinical Significance: pathogenic|likely pathogenic|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.41224634C>T
NC_000003.11:g.41266125C>T
NP_001895.1:p.Thr41Ile
NM_001098210.2:c.122C>T
P35222:p.Thr41Ile
NG_013302.2:g.30184C>T
NM_001904.4:c.122C>T
NM_001330729.2:c.101C>T
NM_001098209.2:c.122C>T
NP_001317658.1:p.Thr34Ile
NP_001091679.1:p.Thr41Ile
NP_001091680.1:p.Thr41Ile
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; EPITHELIOMA CALCIFICANS OF MALHERBE; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Large intestine tumor; Liver cancer; LIVER CELL CARCINOMA; MELANOMA, MALIGNANT, SOMATIC; Pilomatricoma, somatic; Primary carcinoma of liver
Age Of Onset: adolescent|adult



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600640
Created: 2014-05-13
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.