Variant #0000167051 (NC_000001.10:g.[171076835A>G;171086305T>C], FMO3(NM_001002294.2):c.[341A>G;1322T>C])
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.[171076835A>G;171086305T>C] |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
FMO3_000000 See all 4 reported entries |
Variant remarks |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.22) and benzydamine (0.16) |
Reference |
PubMed: Shimizu 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Ornicha Prapapan |
Database submission license |
No license selected |
Created by |
Ornicha Prapapan |
Variant on transcripts
|
|