Bibliome.ai browser hg19
Search
About
Stats
FAQ
FH c.290G>C ;(p.G97A)
Variant ID: 1-241676991-C-G
NM_000143.3(
FH
):c.290G>C;(p.G97A)
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: 290G>C; Gly97Ala
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Turner, Amy J AJ; Aggarwal, Praful P; Miller, Halli E HE; Waukau, Jill J; Routes, John M JM; Broeckel, Ulrich U; Robinson, Richard T RT
Publication Date: 2015-12-15
Variant appearance in text: FH: G97A
PubMed Link:
26621740
Variant Present in the following documents:
Main text
View BVdb publication page