Gene SPG11 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: SPG11
Disorder: Charcot-Marie-Tooth disease
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the SPG11 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 202 |
44944365 |
SPG11 |
NM_025137.4:c.969C>G |
p.Tyr323* |
2 |
0.000838% |
| 466 |
44858195 |
SPG11 |
NM_025137.4:c.6856C>T |
NP_079413.3:p.Arg2286Ter |
1 |
0.000419% |
| 467 |
44876109 |
SPG11 |
NM_025137.4:c.5769delT |
NP_079413.3:p.Ser1923Argfs*28 |
1 |
0.000419% |
