MTHFD1L c.1082+1876A>C

Variant ID: 6-151245314-A-C

NM_015440.4(MTHFD1L):c.1082+1876A>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: rs175853
PubMed Link: 19777576
Variant Present in the following documents:
  • Main text
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