MTHFR c.1315_1317delinsTAA ;(p.L439*)

Variant ID: 1-11854445-GAG-TTA

NM_005957.4(MTHFR):c.1315_1317delinsTAA;(p.L439*)

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: L439*
PubMed Link: 33290257
Variant Present in the following documents:
  • Main text
  • aging-13-202256.pdf
View BVdb publication page