Gene SORD 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: SORD
Disorder: Neuronopathy, distal hereditary motor, autosomal recessive 8
Allele Frequency: 0.00502513
Carrier Rate: 0.00999975
Max At-Risk Couples rate: 0.0001
The table below lists all clinically relevant variants identified in the SORD gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 24 |
45361217 |
SORD |
NM_003104.6:c.757delG |
NP_003095.2:p.Ala253Glnfs*27 |
12 |
0.005025% |
