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