Variant #0000167079 (NC_000001.10:g.171076888G>C, FMO3(NM_001002294.2):c.394G>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076888G>C
DNA change (hg38) g.171107747G>C
Published as -
ISCN -
DB-ID FMO3_000033 See all 3 reported entries
Variant remarks expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3
Reference -
ClinVar ID -
dbSNP ID rs12072582
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00294 View details
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 +?/+? 4 c.394G>C - r.(?) p.(Asp132His)