Gene PCARE 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: PCARE
Disorder: Retinitis pigmentosa 54
Allele Frequency: 0.00335008
Carrier Rate: 0.00667772
Max At-Risk Couples rate: 0.0000446
The table below lists all clinically relevant variants identified in the PCARE gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 45 |
29294161 |
PCARE |
NM_001029883.3:c.2967delT |
NP_001025054.1:p.Val990Trpfs*45 |
7 |
0.002931% |
| 604 |
29293839 |
PCARE |
NM_001029883.3:c.3289C>T |
NP_001025054.1:p.Gln1097Ter |
1 |
0.000419% |
