Variant #0000017105 (NC_000001.10:g.171076922T>A, FMO3(NM_001002294.2):c.428T>A)
Individual ID |
00103183 |
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.171076922T>A |
DNA change (hg38) |
g.171107781T>A |
Published as |
g.15123T>A |
ISCN |
- |
DB-ID |
FMO3_000020 |
Variant remarks |
Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu. |
Reference |
PubMed: Basarab et al. 1999 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
6/88 chromosomes |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Ornicha Prapapan |
Database submission license |
No license selected |
Created by |
Ornicha Prapapan |

Variant on transcripts
Screenings
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