MYOM1 c.1448G>A ;(p.R483H)

Variant ID: 18-3164329-C-T

NM_003803.3(MYOM1):c.1448G>A;(p.R483H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Nature Genetics
Taylor, Kathryn R KR; Mackay, Alan A; Truffaux, Nathalène N; Butterfield, Yaron Y; Morozova, Olena O; Philippe, Cathy C; Castel, David D; Grasso, Catherine S CS; Vinci, Maria M; Carvalho, Diana D; Carcaboso, Angel M AM; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Entz-Werle, Natacha N; Ingram, Wendy J WJ; Monje, Michelle M; Hargrave, Darren D; Bullock, Alex N AN; Puget, Stéphanie S; Yip, Stephen S; Jones, Chris C; Grill, Jacques J
Publication Date: 2014-05

Variant appearance in text: MYOM1: 1448G>A; Arg483His; rs185719202
PubMed Link: 24705252
Variant Present in the following documents:
  • NIHMS57117-supplement-2.xlsx, sheet 2
View BVdb publication page