Variant #0000846626 (NC_000014.8:g.21762845T>A, NM_020366.3:c.95A>T (RPGRIP1))
Individual ID |
00408201 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.21762845T>A |
DNA change (hg38) |
g.21294686T>A |
Published as |
RPGRIP1 c.95T>A, M32L |
ISCN |
- |
DB-ID |
RPGRIP1_000017 See all 8 reported entries |
Variant remarks |
error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous |
Reference |
PubMed: Fernandez-Martinez 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00126 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-04-17 20:11:19 +02:00 (CEST) |
Date last edited |
2022-04-17 20:12:14 +02:00 (CEST) |

Variant on transcripts
Screenings
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