Variant #0000167063 (NC_000001.10:g.171072976C>A, NM_001002294.2:c.183C>A (FMO3))
Chromosome |
1 |
Allele |
Unknown |
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.171072976C>A |
DNA change (hg38) |
g.171103835C>A |
Published as |
- |
ISCN |
- |
DB-ID |
FMO3_000035 See all 3 reported entries |
Variant remarks |
bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac |
Reference |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ornicha Prapapan |
Database submission license |
No license selected |
Created by |
Ornicha Prapapan |
Date created |
2013-03-09 21:18:31 +01:00 (CET) |
Date last edited |
2020-06-05 15:14:21 +02:00 (CEST) |

Variant on transcripts
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