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MTHFR c.1315_1316delinsTG ;(p.L439C)
Variant ID: 1-11854446-AG-CA
NM_005957.4(
MTHFR
):c.1315_1316delinsTG;(p.L439C)
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:
The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Aging
Liu, Xi X; Li, Yu Y; Wang, Menghan M; Wang, Xiaojun X; Zhang, Limin L; Peng, Tao T; Liang, Wenping W; Wang, Zhe Z; Lu, Hong H
Publication Date: 2020-12-03
Variant appearance in text: MTHFR: L439C
PubMed Link:
33290257
Variant Present in the following documents:
Main text
View BVdb publication page