Variant #0000017169 (NC_000001.10:g.171072985del, FMO3(NM_001002294.2):c.192del)
Individual ID |
00103179 |
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.171072985del |
DNA change (hg38) |
g.171103844del |
Published as |
A191 deletion; g.11185delA |
ISCN |
- |
DB-ID |
FMO3_000036 See all 2 reported entries |
Variant remarks |
Also known as M66X and K64Rfs. Truncated protein. Rare variant, 1 individual, compound het with P153L |
Reference |
PubMed: Zhang et al. 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
0/174 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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