Gene SPG7 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: SPG7
Disorder: Spastic paraplegia
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the SPG7 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 121 |
89613145 |
SPG7 |
NM_003119.4:c.1529C>T |
NP_003110.1:p.Ala510Val |
3 |
0.001256% |
| 218 |
89590452 |
SPG7 |
NM_003119.4:c.415C>T |
NP_003110.1:p.Arg139Ter |
2 |
0.000838% |
