Variant #0000167086 (NC_000001.10:g.171072991G>T, NM_001002294.2:c.198G>T (FMO3))

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171072991G>T
DNA change (hg38) g.171103850G>T
Published as -
ISCN -
DB-ID FMO3_000012 See all 3 reported entries
Variant remarks expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation
Reference -
ClinVar ID -
dbSNP ID rs72549323
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
Date created 2013-02-22 22:32:16 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.198G>T - r.(?) p.(Met66Ile)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.