Gene CPLANE1 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: CPLANE1
Disorder: Joubert syndrome
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 CPLANE1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 274 |
37139450 |
CPLANE1 |
NM_023073.4:c.8489_8493delAATTG |
NP_075561.3:p.Glu2830Valfs*2 |
2 |
0.000838% |
| 704 |
37125432 |
CPLANE1 |
NM_023073.4:c.8710C>T |
NP_075561.3:p.Arg2904Ter |
1 |
0.000419% |
| 705 |
37196078 |
CPLANE1 |
NM_023073.4:c.3693dupT |
NP_075561.3:p.Pro1232Serfs*12 |
1 |
0.000419% |
