Gene RPGRIP1 Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: RPGRIP1
Disorder: Cone-rod dystrophy 13
Allele Frequency: 0.00460637
Carrier Rate: 0.00917029
Max At-Risk Couples rate: 0.0000841
The table below lists all clinically relevant variants identified in the RPGRIP1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 52 |
21780617 |
RPGRIP1 |
NM_020366.4:c.1107delA |
NP_065099.3:p.Glu370Asnfs*5 |
6 |
0.002513% |
| 83 |
21779996 |
RPGRIP1 |
NM_020366.4:c.944delT |
NP_065099.3:p.Leu315Argfs*12 |
4 |
0.001675% |
| 442 |
21789473 |
RPGRIP1 |
NM_020366.4:c.1523T>A |
NP_065099.3:p.Leu508Ter |
1 |
0.000419% |
