FH c.60A>G ;(p.A20=)

Variant ID: 1-241682963-T-C

NM_000143.3(FH):c.60A>G;(p.A20=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Spatial and temporal variation of epigaeic beetle assemblages (Coleoptera, Carabidae, Staphylinidae) in aspen-dominated mixedwood forests across north-central Alberta.

Zookeys
Hammond, H E James HEJ; García-Tejero, Sergio S; Pohl, Greg R GR; Langor, David W DW; Spence, John R JR
Publication Date: 2021

Variant appearance in text: FH: A20A
PubMed Link: 34183898
Variant Present in the following documents:
  • Main text
View BVdb publication page



The development of an alternative growth chart for estimated fetal weight in the absence of ultrasound: Application in Indonesia.

Plos One
Anggraini, Dewi D; Abdollahian, Mali M; Marion, Kaye K
Publication Date: 2020

Variant appearance in text: FH: A20A
PubMed Link: 33048951
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: 60A>G; Ala20=
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page