FH c.1190G>C ;(p.G397A)

Variant ID: 1-241665789-C-G

NM_000143.3(FH):c.1190G>C;(p.G397A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Archives Of Medical Science : Ams
Ustaszewski, Adam A; Janowska-Głowacka, Joanna J; Wołyńska, Katarzyna K; Pietrzak, Anna A; Badura-Stronka, Magdalena M
Publication Date: 2021

Variant appearance in text: FH: G397A
PubMed Link: 34336026
Variant Present in the following documents:
  • AMS-17-4-95011.pdf
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: 1190G>C; Gly397Ala
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Successful Direct Adsorption of Lipoproteins (DALI) Apheresis During Pregnancy in an Omani Woman with Homozygous Familial Hypercholesterolemia.

The Open Cardiovascular Medicine Journal
Al-Dughaishi, Tamima T; Al-Waili, Khalid K; Banerjee, Yajnavalka Y; Sheik, Shahila S; Al-Sabti, Hilal H; Al-Zakwani, Ibrahim I; Al-Mukhaini, Suad S; Al Wahaibi, Khalifa K; Al-Hinai, Ali T AT; Al-Rasadi, Khalid K
Publication Date: 2015

Variant appearance in text: FH: G397A
PubMed Link: 27006714
Variant Present in the following documents:
  • Main text
  • TOCMJ-9-114.pdf
View BVdb publication page