DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000269305:c.524G>A
Reference Version: GRCh37
Chromosome: 17
Start: 7578406
Stop: 7578406
Strand: -1
Transcript: ENST00000269305 (ensembl - 74_37)
Gene: TP53 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T ( View in CIViC)
Amino Acid: p.R175H
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.524
Tags: likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
cancer	Stiewe et al., 2000, Nat. Genet.	Literature (View variants)	likely pathogenic
cancer	Kawauchi et al., 2008, Nat. Cell Biol.	Literature (View variants)	likely pathogenic
cancer	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic
breast cancer	Olivier et al., 2006, Clin. Cancer Res.	CIViC Knowledgebase (View variants)		CIViC
breast cancer	Jackson et al., 2012, Cancer Cell	CIViC Knowledgebase (View variants)		CIViC

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