Gene PCDH15 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: PCDH15
Disorder: Usher syndrome 1
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the PCDH15 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 165 |
55582878 |
PCDH15 |
NM_033056.4:c.4604_4608dupAAGTA |
NP_149045.3:p.Ser1537Lysfs*15 |
2 |
0.000838% |
| 362 |
55583113 |
PCDH15 |
NM_033056.4:c.4368-11_4373dup |
NP_149045.3:p.Leu1459Phefs*30 |
1 |
0.000419% |
| 363 |
55700727 |
PCDH15 |
NM_033056.4:c.3131delC |
NP_149045.3:p.Pro1044Glnfs*2 |
1 |
0.000419% |
