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: ENST00000355710:c.2410G>C
Reference Version: GRCh37
Chromosome: 10
Start: 43614996
Stop: 43614996
Strand: 1
Transcript: ENST00000355710 (ensembl - 74_37)
Gene: RET ( View drug interactions on DGIdb )

Information

Reference: G
Variant: C
Amino Acid: p.V804L
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.2410
Tags: activating likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
multiple endocrine neoplasia type 1	Pasini et al., 1997, Oncogene	Kin-Driver (View variants)	activating likely pathogenic
multiple endocrine neoplasia type 2A	Pasini et al., 1997, Oncogene	Kin-Driver (View variants)	activating likely pathogenic
multiple endocrine neoplasia type 2B	Pasini et al., 1997, Oncogene	Kin-Driver (View variants)	activating likely pathogenic
multiple endocrine neoplasia type 4	Pasini et al., 1997, Oncogene	Kin-Driver (View variants)	activating likely pathogenic
thyroid medullary carcinoma	Pasini et al., 1997, Oncogene	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.