Gene OCLN 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: OCLN
Disorder: Pseudo-TORCH syndrome 1
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the OCLN gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 278 |
68849495 |
OCLN |
NM_002538.4:c.1567_1568delTA |
NP_002529.1:p.Ter523Gluext*2 |
2 |
0.000838% |
| 711 |
68830609 |
OCLN |
NM_002538.4:c.981delC |
NP_002529.1:p.Asn328Metfs*4 |
1 |
0.000419% |
