|| unlikely to be associated with trimethylaminuria unless as a carrier (if that)
|| common in clinvar
, also known as Val257Met, is a SNP in the FMO3
gene. It has been linked to trimethylaminuria
; see variant .0002, OMIM 136132
|?|| (A;A) (A;G) (G;G) ||28|
[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.
|| Low clinical importance, Uncertain benign
|| This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.
[PMID 24165757] The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation