Gene HSPG2 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: HSPG2
Disorder: Scoliosis, idiopathic, association with
Allele Frequency: 0.00586265
Carrier Rate: 0.0116566
Max At-Risk Couples rate: 0.000135875
The table below lists all clinically relevant variants identified in the HSPG2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 26 |
22175468 |
HSPG2 |
NM_005529.7:c.7503C>G |
NP_005520.4:p.Tyr2501Ter |
11 |
0.004606% |
| 333 |
22158995 |
HSPG2 |
NM_005529.7:c.11200delG |
NP_005520.4:p.Glu3734Serfs*27 |
1 |
0.000419% |
| 334 |
22202145 |
HSPG2 |
NM_005529.7:c.3279C>A |
NP_005520.4:p.Tyr1093Ter |
1 |
0.000419% |
| 335 |
22211898 |
HSPG2 |
NM_005529.7:c.1125C>A |
NP_005520.4:p.Cys375Ter |
1 |
0.000419% |
