Gene SLC26A4 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: SLC26A4
Disorder: Deafness
Allele Frequency: 0.00795645
Carrier Rate: 0.0157863
Max At-Risk Couples rate: 0.000249207
The table below lists all clinically relevant variants identified in the SLC26A4 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 39 |
107329499 |
SLC26A4 |
NM_000441.2:c.1003T>C |
NP_000432.1:p.Phe335Leu |
8 |
0.00335% |
| 57 |
107315505 |
SLC26A4 |
NM_000441.2:c.716T>A |
p.Val239Asp |
6 |
0.002513% |
| 142 |
107336429 |
SLC26A4 |
NM_000441.2:c.1489G>A |
p.Gly497Ser |
3 |
0.001256% |
| 735 |
107315495 |
SLC26A4 |
NM_000441.1:c.706C>G |
p.Leu236Val |
1 |
0.000419% |
| 736 |
107334921 |
SLC26A4 |
NM_000441.2:c.1337A>G |
NP_000432.1:p.Gln446Arg |
1 |
0.000419% |
