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FH c.157G>T ;(p.E53*)
Variant ID: 1-241680592-C-A
NM_000143.3(
FH
):c.157G>T;(p.E53*)
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: 157G>T; Glu53*
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 4
41379_2020_596_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page
The emerging role and targetability of the TCA cycle in cancer metabolism.
Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02
Variant appearance in text: FH: 157G>T
PubMed Link:
28748451
Variant Present in the following documents:
Main text
13238_2017_Article_451.pdf
View BVdb publication page