Gene GBA 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: GBA
Disorder: Gaucher 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 GBA gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 307 |
155204987 |
GBA |
NM_000157.4:c.1504C>T |
NP_000148.2:p.Arg502Cys |
1 |
0.000419% |
| 308 |
155205043 |
GBA |
NM_000157.4:c.1448T>C |
NP_000148.2:p.Leu483Pro |
1 |
0.000419% |
| 309 |
155209676 |
GBA |
NM_000157.4:c.307+1G>T |
|
1 |
0.000419% |
| 310 |
155210420 |
GBA |
NM_000157.4:c.115+1G>A |
|
1 |
0.000419% |
