MTHFD1L c.2530G>T ;(p.A844S)

Variant ID: 6-151336773-G-T

NM_015440.4(MTHFD1L):c.2530G>T;(p.A844S)

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:

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

Journal Of Human Genetics
Ruiz-Martinez, Javier J; Krebs, Catharine E CE; Makarov, Vladimir V; Gorostidi, Ana A; Martí-Massó, Jose Félix JF; Paisán-Ruiz, Coro C
Publication Date: 2015-10

Variant appearance in text: MTHFD1L: Ala844Ser
PubMed Link: 26134514
Variant Present in the following documents:
  • Main text
  • nihms684830.pdf
View BVdb publication page