Gene VPS13B 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: VPS13B
Disorder: Cohen syndrome
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the VPS13B gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 293 |
100403925 |
VPS13B |
NM_017890.5:c.3075delinsTA |
NP_060360.3:p.Val1026Serfs*12 |
2 |
0.000838% |
| 756 |
100568738 |
VPS13B |
NM_017890.5:c.4881C>G |
NP_060360.3:p.Tyr1627Ter |
1 |
0.000419% |
| 757 |
100874175 |
VPS13B |
NM_017890.5:c.11290+1G>T |
|
1 |
0.000419% |
| 758 |
100887862 |
VPS13B |
NM_017890.5:c.12041dupA |
NP_060360.3:p.Asn4014Lysfs*2 |
1 |
0.000419% |
