Variant #0000167060 (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 |
NA |
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 |
substrate-dependent reduction in activity: 60% for TMA, 30% for methimazole and 6% for 5-DPT |
Reference |
PubMed: Cashman 2003 |
ClinVar ID |
- |
dbSNP ID |
rs12072582 |
Origin |
In vitro (cloned) |
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 |

Variant on transcripts
|
|