Variant #0000017105 (NC_000001.10:g.171076922T>A, NM_001002294.2:c.428T>A (FMO3))
| Individual ID |
00103183 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.171076922T>A |
| DNA change (hg38) |
g.171107781T>A |
| Published as |
g.15123T>A |
| ISCN |
- |
| DB-ID |
FMO3_000020 |
| Variant remarks |
Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu. |
| Reference |
PubMed: Basarab et al. 1999 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
6/88 chromosomes |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Ornicha Prapapan |
| Database submission license |
No license selected |
| Created by |
Ornicha Prapapan |
| Date created |
2013-02-27 23:17:59 +01:00 (CET) |
| Date last edited |
2017-04-05 10:54:58 +02:00 (CEST) |

Variant on transcripts
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