Variant #0000813654 (NC_000014.8:g.21762904C>T, NM_020366.3:c.154C>T (RPGRIP1))
| Individual ID |
00385018 |
| Chromosome |
14 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.21762904C>T |
| DNA change (hg38) |
g.21294745C>T |
| Published as |
RPGRIP1 NM_020366: g.6807C>T, c.154C>T, p.R52X |
| ISCN |
- |
| DB-ID |
RPGRIP1_000003 See all 8 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Xu 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-10-06 17:52:46 +02:00 (CEST) |
| Date last edited |
2021-10-08 12:10:40 +02:00 (CEST) |

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