MTHFD1L c.892+3100A>G

Variant ID: 6-151229997-A-G

NM_015440.4(MTHFD1L):c.892+3100A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.

Bmc Medical Genetics
Pangilinan, Faith F; Molloy, Anne M AM; Mills, James L JL; Troendle, James F JF; Parle-McDermott, Anne A; Signore, Caroline C; O'Leary, Valerie B VB; Chines, Peter P; Seay, Jessica M JM; Geiler-Samerotte, Kerry K; Mitchell, Adam A; VanderMeer, Julia E JE; Krebs, Kristine M KM; Sanchez, Angelica A; Cornman-Homonoff, Joshua J; Stone, Nicole N; Conley, Mary M; Kirke, Peadar N PN; Shane, Barry B; Scott, John M JM; Brody, Lawrence C LC
Publication Date: 2012-08-02

Variant appearance in text: rs17080476
PubMed Link: 22856873
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-62.pdf
View BVdb publication page



Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.

Bmc Medical Genetics
Minguzzi, Stefano S; Molloy, Anne M AM; Peadar, Kirke K; Mills, James J; Scott, John M JM; Troendle, James J; Pangilinan, Faith F; Brody, Lawrence L; Parle-McDermott, Anne A
Publication Date: 2012-04-20

Variant appearance in text: rs17080476
PubMed Link: 22520921
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-29.pdf
View BVdb publication page



A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.

Human Mutation
Parle-McDermott, Anne A; Pangilinan, Faith F; O'Brien, Kirsty K KK; Mills, James L JL; Magee, Alan M AM; Troendle, James J; Sutton, Marie M; Scott, John M JM; Kirke, Peadar N PN; Molloy, Anne M AM; Brody, Lawrence C LC
Publication Date: 2009-12

Variant appearance in text: rs17080476
PubMed Link: 19777576
Variant Present in the following documents:
  • Main text
View BVdb publication page