FH c.107T>G ;(p.F36C)

Variant ID: 1-241682916-A-C

NM_000143.3(FH):c.107T>G;(p.F36C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Non-destructive identification of single hard seed via multispectral imaging analysis in six legume species.

Plant Methods
Hu, Xiaowen X; Yang, Lingjie L; Zhang, Zuxin Z
Publication Date: 2020

Variant appearance in text: FH: F36C
PubMed Link: 32863853
Variant Present in the following documents:
  • Main text
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: 107T>G; Phe36Cys
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page