MTHFR c.233C>G ;(p.S78*)

Variant ID: 1-11862941-G-C

NM_005957.4(MTHFR):c.233C>G;(p.S78*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)
Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR
Publication Date: 2022-05

Variant appearance in text: MTHFR: 233C>G; Ser78Ter; rs776969786
PubMed Link: 35029067
Variant Present in the following documents:
  • CAC2-42-481-s003.xlsx, sheet 3
View BVdb publication page



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: 233C>G; Ser78*
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page