Gene CDK5RAP2 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: CDK5RAP2
Disorder: Autism spectrum disorder
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the CDK5RAP2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 60 |
123169289 |
CDK5RAP2 |
NM_018249.6:c.4963+1G>A |
|
6 |
0.002513% |
| 783 |
123222947 |
CDK5RAP2 |
NM_018249.6:c.2107-2A>G |
|
1 |
0.000419% |
