Variant #0000019255 (NC_000001.10:g.171059708_171071933del, FMO3(NM_001002294.2):c.-421_133-993del)
Individual ID |
00103154 |
Chromosome |
1 |
Allele |
Both (homozygous) |
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.171059708_171071933del |
DNA change (hg38) |
g.171090567_171102792del |
Published as |
g.-2092 to 10145del |
ISCN |
- |
DB-ID |
FMO3_000091 See all 2 reported entries |
Variant remarks |
12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry. |
Reference |
PubMed: Forrest et al. 2006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
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
Screenings
|
|