Gene CLN3 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: CLN3
Disorder: Retinal dystrophy, early-onset
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 CLN3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 489 |
28488923 |
CLN3 |
NM_001042432.2:c.1231delG |
NP_001035897.1:p.Ala411Profs |
1 |
0.000419% |
| 490 |
28488944 |
CLN3 |
NM_001042432.2:c.1210delC |
NP_001035897.1:p.His404Thrfs |
1 |
0.000419% |
| 491 |
28499941 |
CLN3 |
NM_001042432.2:c.265C>T |
NP_001035897.1:p.Arg89Ter |
1 |
0.000419% |
