Gene ARSA 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: ARSA
Disorder: Metachromatic leukodystrophy
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 ARSA gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 646 |
51064102 |
ARSA |
NM_000487.6:c.1115G>A |
NP_000478.3:p.Arg372Gln |
1 |
0.000419% |
| 647 |
51065802 |
ARSA |
NM_000487.6:c.257G>A |
NP_000478.3:p.Arg86Gln |
1 |
0.000419% |
