Variant #0000174167 (NC_000010.10:g.73122267G>T, NM_018344.5:c.1330G>T (SLC29A3))
| Individual ID |
00107791 |
| Chromosome |
10 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73122267G>T |
| DNA change (hg38) |
g.71362510G>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SLC29A3_000006 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
| Owner |
Johan den Dunnen |
| Database submission license |
No license selected |
| Created by |
Neil Morgan |
| Date created |
2010-01-28 12:38:37 +01:00 (CET) |
| Date last edited |
2010-01-29 13:19:19 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|