Variant #0000167111 (NC_000001.10:g.171073002C>T, FMO3(NM_001002294.2):c.209C>T)
Individual ID |
00103198 |
Chromosome |
1 |
Allele |
Parent #2 |
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.171073002C>T |
DNA change (hg38) |
g.171103861C>T |
Published as |
g.16919C>T |
ISCN |
- |
DB-ID |
FMO3_000014 See all 5 reported entries |
Variant remarks |
- |
Reference |
PubMed: Shimizu 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
2/1280 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 |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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