Gene CTNS 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: CTNS
Disorder: Cystinosis
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the CTNS gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 518 |
3558607 |
CTNS |
NM_004937.3:c.422C>T |
NP_004928.2:p.Ser141Phe |
1 |
0.000419% |
| 519 |
3560089 |
CTNS |
NM_004937.3:c.681G>A |
p.Glu227= |
1 |
0.000419% |
