DoCM - Database of Curated Mutations

Sorry, the DoCM website requires Javascript to function properly.

You may be interested in using the API for programatic access.

Variant Data

Location

HGVS: ENST00000286301:c.2906A>G
Reference Version: GRCh37
Chromosome: 5
Start: 149433645
Stop: 149433645
Strand: -1
Transcript: ENST00000286301 (ensembl - 74_37)
Gene: CSF1R ( View drug interactions on DGIdb )

Information

Reference: T
Variant: C
Amino Acid: p.Y969C
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.2906
Tags: likely pathogenic activating

Disease Data

Disease	Source	Batch	Tags	External Links
cancer	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic
hematologic cancer	Ridge et al., 1990, Proc. Natl. Acad. Sci. U.S.A.	Kin-Driver (View variants)	activating likely pathogenic

Produced by The McDonnell Genome Institute at the Washington University School of Medicine

DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.