DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000351936:c.755C>G
Reference Version: GRCh37
Chromosome: 10
Start: 123279677
Stop: 123279677
Strand: -1
Transcript: ENST00000351936 (ensembl - 74_37)
Gene: FGFR2 ( View drug interactions on DGIdb )

Information

Reference: G
Variant: C
Amino Acid: p.S252W
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.755
Tags: likely pathogenic activating

Disease Data

Disease	Source	Batch	Tags	External Links
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
uterine carcinosarcoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
acrocephalosyndactylia	Mansukhani et al., 2000, J. Cell Biol.	Kin-Driver (View variants)	activating likely pathogenic

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