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FH c.1120C>T ;(p.P374S)
Variant ID: 1-241665859-G-A
NM_000143.3(
FH
):c.1120C>T;(p.P374S)
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:
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: FH: 1120C>T; Pro374Ser; rs876660446
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
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: 1120C>T; Pro374Ser
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM3_ESM.pdf
41379_2020_596_MOESM2_ESM.xlsx, sheet 5
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
41379_2020_596_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page