Variant #0000019558 (NC_000001.10:g.171059694G>A, FMO3(NM_001002294.2):c.-435G>A)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.171059694G>A |
DNA change (hg38) |
g.171090553G>A |
Published as |
-2106G>A |
ISCN |
- |
DB-ID |
FMO3_000099 |
Variant remarks |
decreases transcription in vitro, effect in vivo unknown |
Reference |
PubMed: Koukouritaki et al. 2005 |
ClinVar ID |
- |
dbSNP ID |
rs16864006 |
Origin |
Germline |
Segregation |
? |
Frequency |
HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Ian Phillips |
Database submission license |
No license selected |
Created by |
Ian Phillips |

Variant on transcripts
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