FH c.928A>T ;(p.N310Y)

Variant ID: 1-241667522-T-A

NM_000143.3(FH):c.928A>T;(p.N310Y)

This variant was identified in 4 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: 928A>T; Asn310Tyr
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Identification of mental health and quality of life outcomes in primary care databases in the UK: a systematic review.

Bmj Open
Carreira, Helena H; Williams, Rachael R; Strongman, Helen H; Bhaskaran, Krishnan K
Publication Date: 2019-07-02

Variant appearance in text: FH: N310y
PubMed Link: 31270119
Variant Present in the following documents:
  • bmjopen-2019-029227supp004.pdf
  • bmjopen-2019-029227.draft_revisions.pdf
View BVdb publication page



Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease
Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U
Publication Date: 2011-06

Variant appearance in text: FH: 928A>T; N310Y
PubMed Link: 21445611
Variant Present in the following documents:
  • Main text
  • 10545_2011_Article_9294.pdf
View BVdb publication page



The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics
Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP
Publication Date: 2008-03-25

Variant appearance in text: FH: Asn310Tyr
PubMed Link: 18366737
Variant Present in the following documents:
  • 1471-2350-9-20.pdf
View BVdb publication page