rs3832406
This variant is located in the MTHFD1L gene.
▶Research that mentions this SNP (1)
▶A common variant inMTHFD1Lis associated with neural tube defects and mRNA splicing efficiencyAssociationN=2,565Anne Parle-McDermott et al.(2009)· Human Mutation
A common deletion/insertion polymorphism rs3832406 (c.781-6823ATT(7-9)) in MTHFD1L is strongly associated with neural tube defects (NTDs), with Allele 2 showing decreased case risk (OR=0.72, P=0.002 case-control; P=0.001 TDT) and Allele 1 showing increased case risk. The variants influence splicing efficiency of MTHFD1L mRNA transcripts, with Allele 1 producing 1.4-fold higher levels of the functional long transcript variant (P=0.006).
About MTHFD1L
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
View all MTHFD1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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