Gene CFTR 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: CFTR
Disorder: Cystic fibrosis
Allele Frequency: 0.00335008
Carrier Rate: 0.00667772
Max At-Risk Couples rate: 0.0000446
The table below lists all clinically relevant variants identified in the CFTR gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 143 |
117246808 |
CFTR |
NM_000492.3:c.2988+1G>A |
p.? |
3 |
0.001256% |
| 288 |
117227855 |
CFTR |
NM_000492.3:c.1647T>G |
p.Ser549Arg |
2 |
0.000838% |
| 737 |
117170982 |
CFTR |
NM_000492.4:c.303delA |
NP_000483.3:p.Leu101Phefs*6 |
1 |
0.000419% |
| 738 |
117176703 |
CFTR |
NM_000492.4:c.850dupA |
NP_000483.3:p.Met284Asnfs*3 |
1 |
0.000419% |
| 739 |
117243762 |
CFTR |
NM_000492.4:c.2834C>T |
NP_000483.3:p.Ser945Leu |
1 |
0.000419% |
