Variant #0000018043 (NC_000001.10:g.171061911G>T, FMO3(NM_001002294.2):c.112G>T)
Individual ID |
00103149 |
Chromosome |
1 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.171061911G>T |
DNA change (hg38) |
g.171092770G>T |
Published as |
Gly38Trp |
ISCN |
- |
DB-ID |
FMO3_000104 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ferreira 2013 |
ClinVar ID |
- |
dbSNP ID |
rs199975586 |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
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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