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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