Variant #0000167055 (NC_000001.10:g.171076966G>A, FMO3(NM_001002294.2):c.472G>A)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.171076966G>A |
DNA change (hg38) |
g.171107825G>A |
Published as |
- |
ISCN |
- |
DB-ID |
FMO3_000008 See all 27 reported entries |
Variant remarks |
little/moderate substrate-dependent effect, results vary among labs, effect greater when present in cis with p.Glu308Gly: kcat/Km for methimazole reduced 16% (p.Glu158Lys) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). E158K shows 5-fold increased tamoxifen N-oxygenation (Krueger 2006). |
Reference |
PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999 |
ClinVar ID |
- |
dbSNP ID |
rs72549321 |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.37494 View details |
Owner |
Ornicha Prapapan |
Database submission license |
No license selected |
Created by |
Ornicha Prapapan |

Variant on transcripts
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