Variant #0000167086 (NC_000001.10:g.171072991G>T, FMO3(NM_001002294.2):c.198G>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.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 |
0 |
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 |

Variant on transcripts
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