Variant #0000017091 (NC_000001.10:g.171076936G>T, FMO3(NM_001002294.2):c.442G>T)
Individual ID |
00103136 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.171076936G>T |
DNA change (hg38) |
g.171107795G>T |
Published as |
g.15137G>T |
ISCN |
- |
DB-ID |
FMO3_000006 |
Variant remarks |
Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64) |
Reference |
PubMed: Park et al. 1999 |
ClinVar ID |
- |
dbSNP ID |
rs72549325 |
Origin |
Germline |
Segregation |
? |
Frequency |
1/140 chromosomes |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Ornicha Prapapan |
Database submission license |
No license selected |
Created by |
Ornicha Prapapan |

Variant on transcripts
Screenings
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