MTHFR c.28A>T ;(p.S10C)

Variant ID: 1-11863146-T-A

NM_005957.4(MTHFR):c.28A>T;(p.S10C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy.

Cell Reports
Sayles, Nicole M NM; Southwell, Nneka N; McAvoy, Kevin K; Kim, Kihwan K; Pesini, Alba A; Anderson, Corey J CJ; Quinzii, Catarina C; Cloonan, Suzanne S; Kawamata, Hibiki H; Manfredi, Giovanni G
Publication Date: 2022-03-08

Variant appearance in text: MTHFR: S10C
PubMed Link: 35263592
Variant Present in the following documents:
  • Main text
  • nihms-1787422.pdf
View BVdb publication page



Responses of a Newly Evolved Auxotroph of Chlamydomonas to B12 Deprivation.

Plant Physiology
Bunbury, Freddy F; Helliwell, Katherine E KE; Mehrshahi, Payam P; Davey, Matthew P MP; Salmon, Deborah L DL; Holzer, Andre A; Smirnoff, Nicholas N; Smith, Alison G AG
Publication Date: 2020-05

Variant appearance in text: MTHFR: S10C
PubMed Link: 32079734
Variant Present in the following documents:
  • Main text
View BVdb publication page