MTHFR c.1470_1528del ;(p.K491Gfs*27)

Variant ID: 1-11853966-TTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTC-T

NM_005957.4(MTHFR):c.1470_1528del;(p.K491Gfs*27)

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:

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

Plos One
Martínez-Pizarro, Ainhoa A; Desviat, Lourdes R LR; Ugarte, Magdalena M; Pérez, Belén B; Richard, Eva E
Publication Date: 2016

Variant appearance in text: MTHFR: V450_K510del
PubMed Link: 26959487
Variant Present in the following documents:
  • Main text
  • pone.0150357.pdf
View BVdb publication page