MTHFR c.1970G>C ;(p.*657Sext*50)

Variant ID: 1-11850738-C-G

NM_005957.4(MTHFR):c.1970G>C;(p.*657Sext*50)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Genes
Barretta, Ferdinando F; Uomo, Fabiana F; Fecarotta, Simona S; Albano, Lucia L; Crisci, Daniela D; Verde, Alessandra A; Fisco, Maria Grazia MG; Gallo, Giovanna G; Dottore Stagna, Daniela D; Pricolo, Maria Rosaria MR; Alagia, Marianna M; Terrone, Gaetano G; Rossi, Alessandro A; Parenti, Giancarlo G; Ruoppolo, Margherita M; Mazzaccara, Cristina C; Frisso, Giulia G
Publication Date: 2023-04-26

Variant appearance in text: MTHFR: 1970G>C
PubMed Link: 37239340
Variant Present in the following documents:
  • Main text
  • genes-14-00980.pdf
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: 1970G>C
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page



CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Molecular Metabolism
Montagne, Louise L; Derhourhi, Mehdi M; Piton, Amélie A; Toussaint, Bénédicte B; Durand, Emmanuelle E; Vaillant, Emmanuel E; Thuillier, Dorothée D; Gaget, Stefan S; De Graeve, Franck F; Rabearivelo, Iandry I; Lansiaux, Amélie A; Lenne, Bruno B; Sukno, Sylvie S; Desailloud, Rachel R; Cnop, Miriam M; Nicolescu, Ramona R; Cohen, Lior L; Zagury, Jean-François JF; Amouyal, Mélanie M; Weill, Jacques J; Muller, Jean J; Sand, Olivier O; Delobel, Bruno B; Froguel, Philippe P; Bonnefond, Amélie A
Publication Date: 2018-07

Variant appearance in text: MTHFR: 1970G>C; rs749490263
PubMed Link: 29784605
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic component of preeclampsia: A whole-exome sequencing study.

Plos One
Hansen, Anette Tarp AT; Bernth Jensen, Jens Magnus JM; Hvas, Anne-Mette AM; Christiansen, Mette M
Publication Date: 2018

Variant appearance in text: MTHFR: 1970G>C
PubMed Link: 29758065
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Orphanet Journal Of Rare Diseases
Gales, Ana A; Masingue, Marion M; Millecamps, Stephanie S; Giraudier, Stephane S; Grosliere, Laure L; Adam, Claude C; Salim, Claudio C; Navarro, Vincent V; Nadjar, Yann Y
Publication Date: 2018-02-01

Variant appearance in text: MTHFR: 1970G>C
PubMed Link: 29391032
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_767.pdf
View BVdb publication page