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
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