DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000349496:c.134C>T
Reference Version: GRCh37
Chromosome: 3
Start: 41266137
Stop: 41266137
Strand: 1
Transcript: ENST00000349496 (ensembl - 74_37)
Gene: CTNNB1 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.S45F
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.134
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
melanoma	Rubinfeld et al., 1997, Science	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Rimm et al., 1999, Am. J. Pathol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Omholt et al., 2001, Int. J. Cancer	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Pollock et al., 2002, Melanoma Res.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Demunter et al., 2002, Mod. Pathol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Reifenberger et al., 2002, Int. J. Cancer	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
melanoma	Worm et al., 2004, Oncogene	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
adrenal cortical adenoma	Hamada et al., 2014, PLoS ONE	Literature (View variants)	likely pathogenic
adrenal cortical adenoma	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic
hepatocellular carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
adrenocortical carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
skin melanoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
uterine corpus endometrial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
colorectal cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
prostate adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
lung adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
urinary bladder urothelial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

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