Gene SLC3A1 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: SLC3A1
Disorder: Cystinuria
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the SLC3A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 129 |
44508562 |
SLC3A1 |
NM_000341.4:c.647C>T |
p.Thr216Met |
3 |
0.001256% |
| 130 |
44539792 |
SLC3A1 |
NM_000341.4:c.1400T>C |
NP_000332.2:p.Met467Thr |
3 |
0.001256% |
