Gene GALC 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: GALC
Disorder: Krabbe disease
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 GALC gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 84 |
88452941 |
GALC |
NM_000153.4:c.334A>G |
p.Thr112Ala |
4 |
0.001675% |
| 198 |
88452896 |
GALC |
NM_000153.4:c.379C>T |
NP_000144.2:p.Arg127Ter |
2 |
0.000838% |
| 447 |
88459489 |
GALC |
NM_000153.4:c.20C>A |
NP_000144.2:p.Ser7Ter |
1 |
0.000419% |
