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MTHFR c.1122C>G ;(p.Y374*)
Variant ID: 1-11854830-G-C
NM_005957.4(
MTHFR
):c.1122C>G;(p.Y374*)
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:
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019
Variant appearance in text: MTHFR: 1122C>G; Tyr374*
PubMed Link:
31068897
Variant Present in the following documents:
Main text
fneur-10-00411.pdf
View BVdb publication page