FH c.1258G>T ;(p.A420S)

Variant ID: 1-241663869-C-A

NM_000143.3(FH):c.1258G>T;(p.A420S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 1258G>T; Ala420Ser
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Game of Stones: feasibility randomised controlled trial of how to engage men with obesity in text message and incentive interventions for weight loss.

Bmj Open
Dombrowski, Stephan U SU; McDonald, Matthew M; van der Pol, Marjon M; Grindle, Mark M; Avenell, Alison A; Carroll, Paula P; Calveley, Eileen E; Elders, Andrew A; Glennie, Nicola N; Gray, Cindy M CM; Harris, Fiona M FM; Hapca, Adrian A; Jones, Claire C; Kee, Frank F; McKinley, Michelle C MC; Skinner, Rebecca R; Tod, Martin M; Hoddinott, Pat P
Publication Date: 2020-02-25

Variant appearance in text: FH: A420S
PubMed Link: 32102807
Variant Present in the following documents:
  • Main text
  • bmjopen-2019-032653.pdf
  • bmjopen-2019-032653.draft_revisions.pdf
View BVdb publication page