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FH c.975T>G ;(p.S325R)
Variant ID: 1-241667475-A-C
NM_000143.3(
FH
):c.975T>G;(p.S325R)
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: 975T>G; Ser325Arg
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Potential interface between ribosomal protein production and pre-rRNA processing.
Molecular And Cellular Biology
Rudra, Dipayan D; Mallick, Jaideep J; Zhao, Yu Y; Warner, Jonathan R JR
Publication Date: 2007-07
Variant appearance in text: FH: S325R
PubMed Link:
17452446
Variant Present in the following documents:
Main text
View BVdb publication page