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FH c.1438T>G ;(p.S480A)
Variant ID: 1-241661223-A-C
NM_000143.3(
FH
):c.1438T>G;(p.S480A)
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: 1438T>G; Ser480Ala
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention.
Cancers
Gaba, Faiza F; Blyuss, Oleg O; Liu, Xinting X; Goyal, Shivam S; Lahoti, Nishant N; Chandrasekaran, Dhivya D; Kurzer, Margarida M; Kalsi, Jatinderpal J; Sanderson, Saskia S; Lanceley, Anne A; Ahmed, Munaza M; Side, Lucy L; Gentry-Maharaj, Aleksandra A; Wallis, Yvonne Y; Wallace, Andrew A; Waller, Jo J; Luccarini, Craig C; Yang, Xin X; Dennis, Joe J; Dunning, Alison A; Lee, Andrew A; Antoniou, Antonis C AC; Legood, Rosa R; Menon, Usha U; Jacobs, Ian I; Manchanda, Ranjit R
Publication Date: 2020-05-15
Variant appearance in text: FH: 1438T>G
PubMed Link:
32429029
Variant Present in the following documents:
Main text
View BVdb publication page