Variant #0000167088 (NC_000001.10:g.171073002C>T, FMO3(NM_001002294.2):c.209C>T)

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.171073002C>T
DNA change (hg38) g.171103861C>T
Published as -
ISCN -
DB-ID FMO3_000014 See all 5 reported entries
Variant remarks expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.209C>T - r.(?) p.(Pro70Leu)