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FH c.521C>A ;(p.P174H)
Variant ID: 1-241675301-G-T
NM_000143.3(
FH
):c.521C>A;(p.P174H)
This variant was identified in 2 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: 521C>A; Pro174His; rs199822819
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
41379_2020_596_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
Monogenic and polygenic inheritance become instruments for clonal selection.
Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08
Variant appearance in text: rs199822819
PubMed Link:
32581363
Variant Present in the following documents:
Main text
NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
nihms-1587518.pdf
View BVdb publication page