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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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