Gene GYS2 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: GYS2
Disorder: Glycogen storage disease 0
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the GYS2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 112 |
21721886 |
GYS2 |
NM_021957.4:c.736C>T |
NP_068776.2:p.Arg246Ter |
3 |
0.001256% |
| 188 |
21713333 |
GYS2 |
NM_021957.4:c.1156C>T |
NP_068776.2:p.Arg386Ter |
2 |
0.000838% |
| 189 |
21727209 |
GYS2 |
NM_021957.4:c.547C>T |
NP_068776.2:p.Gln183Ter |
2 |
0.000838% |
