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FH c.73G>A ;(p.A25T)
Variant ID: 1-241682950-C-T
NM_000143.3(
FH
):c.73G>A;(p.A25T)
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:
Clinical Value and Underlying Mechanisms of Upregulated LINC00485 in Hepatocellular Carcinoma.
Frontiers In Oncology
Zhu, Xinyu X; Feng, Yanlin Y; He, Dingdong D; Wang, Zi Z; Huang, Fangfang F; Tu, Jiancheng J
Publication Date: 2021
Variant appearance in text: FH: A25T
PubMed Link:
34290977
Variant Present in the following documents:
fonc-11-654424.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: 73G>A; Ala25Thr
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
41379_2020_596_MOESM2_ESM.xlsx, sheet 7
41379_2020_596_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page
A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.
Investigative Ophthalmology & Visual Science
Zadoo, Serena S; Nguyen, Annie A; Zode, Gulab G; Hulleman, John D JD
Publication Date: 2016-04-01
Variant appearance in text: FH: A25T
PubMed Link:
27092720
Variant Present in the following documents:
i1552-5783-57-4-1939.pdf
View BVdb publication page