FH c.587A>C ;(p.H196P)

Variant ID: 1-241672054-T-G

NM_000143.3(FH):c.587A>C;(p.H196P)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 587A>C; His196Pro
PubMed Link: 32612247
Variant Present in the following documents:
  • Main text
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
  • 41379_2020_596_MOESM1_ESM.xlsx, sheet 6
  • 41379_2020_Article_596.pdf
  • 41379_2020_596_MOESM3_ESM.pdf
View BVdb publication page