Variant #0000167065 (NC_000001.10:g.171085412G>T, FMO3(NM_001002294.2):c.1248G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.171085412G>T
DNA change (hg38) g.171116272G>T
Published as -
ISCN -
DB-ID FMO3_000032 See all 3 reported entries
Variant remarks Little or no effect. Substrate-dependent: mcat/Km increased 40% for N-oxygenation of TMA, reduced for S-oxygenation of methimazole (by 40%) and of ethylenethiourea (by 15%); no effect on S-oxygenation of sulindac sulfide.
Reference PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 -?/-? 8 c.1248G>T - r.(?) p.Lys416Asn