Gene B3GALT6 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: B3GALT6
Disorder: Spondyloepimetaphyseal dysplasia with joint laxity
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the B3GALT6 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 98 |
1168571 |
B3GALT6 |
NM_080605.4:c.913C>T |
NP_542172.2:p.Gln305Ter |
3 |
0.001256% |
