Gene LYST 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: LYST
Disorder: Chediak-Higashi syndrome
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the LYST gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 337 |
235827283 |
LYST |
NM_000081.4:c.11267+1G>C |
|
1 |
0.000419% |
| 338 |
235970061 |
LYST |
NM_000081.4:c.2374_2375delGA |
NP_000072.2:p.Asp792Phefs*6 |
1 |
0.000419% |
