Variant #0000167070 (NC_000001.10:g.171059708_171071933del, FMO3(NM_001002294.2):c.-421_133-993del)

Chromosome 1
Allele Both (homozygous)
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.171059708_171071933del
DNA change (hg38) g.171090567_171102792del
Published as -
ISCN -
DB-ID FMO3_000091 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 Ian Phillips
Database submission license No license selected
Created by Ian Phillips
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ _1_2i c.-421_133-993del - r.(?) p.?