Gene SLC25A20 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: SLC25A20
Disorder: Carnitine-acylcarnitine translocase deficiency
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 SLC25A20 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 678 |
48896552 |
SLC25A20 |
NM_000387.6:c.691G>C |
NP_000378.1:p.Asp231His |
1 |
0.000419% |
| 679 |
48921567 |
SLC25A20 |
NM_000387.6:c.199-10T>G |
|
1 |
0.000419% |
