FH c.1214T>C ;(p.L405S)

Variant ID: 1-241665765-A-G

NM_000143.3(FH):c.1214T>C;(p.L405S)

This variant was identified in 2 publications

View GRCh38 version.




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: 1214T>C; Leu405Ser
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.

Molecular Genetics & Genomic Medicine
Zhao, Zichen Z; Wang, Wenhui W; You, Yan Y; Zhu, Lan L; Feng, Fengzhi F
Publication Date: 2020-01

Variant appearance in text: FH: L405S
PubMed Link: 31773923
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1068.pdf
View BVdb publication page