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FH c.718G>A ;(p.V240I)
Variant ID: 1-241671923-C-T
NM_000143.3(
FH
):c.718G>A;(p.V240I)
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: 718G>A; Val240Ile
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Journal Of Clinical Medicine
Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G
Publication Date: 2020-01-14
Variant appearance in text: FH: 718G>A
PubMed Link:
31947532
Variant Present in the following documents:
Main text
jcm-09-00219.pdf
View BVdb publication page