FH c.26C>T ;(p.A9V)

Variant ID: 1-241682997-G-A

NM_000143.3(FH):c.26C>T;(p.A9V)

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: 26C>T; Ala9Val
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 6
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

International Journal Of Molecular Sciences
Su, Ming M; Wang, Jizheng J; Kang, Lianming L; Wang, Yilu Y; Zou, Yubao Y; Feng, Xinxing X; Wang, Dong D; Ahmad, Ferhaan F; Zhou, Xianliang X; Hui, Rutai R; Song, Lei L
Publication Date: 2014-05-26

Variant appearance in text: FH: 26C>T
PubMed Link: 24865491
Variant Present in the following documents:
  • ijms-15-09302-s001.pdf
View BVdb publication page