Variant #0000167073 (NC_000001.10:g.171072985del, FMO3(NM_001002294.2):c.192del)

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.171072985del
DNA change (hg38) g.171103844del
Published as -
ISCN -
DB-ID FMO3_000036 See all 2 reported entries
Variant remarks Expected to affect metabolism of drug substrates of FMO3
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.192del - r.(?) p.(Glu65Argfs*2)