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MTHFR c.88T>G ;(p.S30A)
Variant ID: 1-11863086-A-C
NM_005957.4(
MTHFR
):c.88T>G;(p.S30A)
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:
Regulation of folate and methionine metabolism by multisite phosphorylation of human methylenetetrahydrofolate reductase.
Scientific Reports
Zheng, Yuxiang Y; Ramsamooj, Shivan S; Li, Qian Q; Johnson, Jared L JL; Yaron, Tomer M TM; Sharra, Klaus K; Cantley, Lewis C LC
Publication Date: 2019-03-12
Variant appearance in text: MTHFR: S30A
PubMed Link:
30862944
Variant Present in the following documents:
Main text
41598_2019_Article_40950.pdf
View BVdb publication page