Gene CFAP53 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: CFAP53
Disorder: Dextrocardia and situs disturbances
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 CFAP53 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 228 |
47777175 |
CFAP53 |
NM_145020.5:c.949delG |
NP_659457.2:p.Ala317Profs*19 |
2 |
0.000838% |
| 548 |
47769453 |
CFAP53 |
NM_145020.5:c.1030A>T |
NP_659457.2:p.Lys344Ter |
1 |
0.000419% |
