Variant #0000019561 (NC_000001.10:g.171077252A>C, FMO3(NM_001002294.2):c.517A>C)
Individual ID |
00103155 |
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.171077252A>C |
DNA change (hg38) |
g.171108111A>C |
Published as |
S173R |
ISCN |
- |
DB-ID |
FMO3_000102 See all 2 reported entries |
Variant remarks |
One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G. |
Reference |
PubMed: Mayatepek et al. 2004 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Elizabeth A. Shephard |
Database submission license |
No license selected |
Created by |
Elizabeth A. Shephard |

Variant on transcripts
Screenings
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