Gene DONSON 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: DONSON
Disorder: Microcephaly
Allele Frequency: 0.00963149
Carrier Rate: 0.0190775
Max At-Risk Couples rate: 0.000363949
The table below lists all clinically relevant variants identified in the DONSON gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 13 |
34951753 |
DONSON |
NM_017613.4:c.1466A>C |
p.Lys489Thr |
22 |
0.009213% |
| 624 |
34951655 |
DONSON |
NM_017613.4:c.1563+1G>T |
|
1 |
0.000419% |
