Variant #0000167063 (NC_000001.10:g.171072976C>A, FMO3(NM_001002294.2):c.183C>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.171072976C>A
DNA change (hg38) g.171103835C>A
Published as -
ISCN -
DB-ID FMO3_000035 See all 3 reported entries
Variant remarks bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac
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) Variant not found in online data sets
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.183C>A - r.(?) p.Asn61Lys