DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000371953:c.388C>T
Reference Version: GRCh37
Chromosome: 10
Start: 89692904
Stop: 89692904
Strand: 1
Transcript: ENST00000371953 (ensembl - 74_37)
Gene: PTEN ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.R130*
Mutation Type: stop_lost
Variant Type: SNV (SO:0001483)
cDNA Change: c.388
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
ovarian cancer	Neshat et al., 2001, Proc. Natl. Acad. Sci. U.S.A.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
ovarian cancer	Chalhoub et al., 2009, Annu Rev Pathol	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
ovarian cancer	Courtney et al., 2010, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
brain cancer	Wen et al., 2001, Proc. Natl. Acad. Sci. U.S.A.	Literature (View variants)	likely pathogenic
brain cancer	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic

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