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.




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