DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000269305:c.730G>T
Reference Version: GRCh37
Chromosome: 17
Start: 7577551
Stop: 7577551
Strand: -1
Transcript: ENST00000269305 (ensembl - 74_37)
Gene: TP53 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: A
Amino Acid: p.G244C
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.730
Tags: likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
ovarian serous cystadenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
esophageal 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
uterine corpus endometrial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
gastric adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
lung squamous cell carcinoma	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
glioblastoma multiforme	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
uterine carcinosarcoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
lung small cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
hepatocellular carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
brain glioma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
head and neck squamous cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

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