MTHFR c.16A>T ;(p.R6*)

Variant ID: 1-11863158-T-A

NM_005957.4(MTHFR):c.16A>T;(p.R6*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019

Variant appearance in text: MTHFR: 16A>T
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page