Gene NBAS 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: NBAS
Disorder: Bone, connective tissue, liver, immune system & retinal defects
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 NBAS gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 578 |
15449372 |
NBAS |
NM_015909.4:c.4583-1G>T |
|
1 |
0.000419% |
| 580 |
15615939 |
NBAS |
NM_015909.4:c.1213C>T |
NP_056993.2:p.Arg405Ter |
1 |
0.000419% |
| 581 |
15674727 |
NBAS |
NM_015909.4:c.686dupT |
NP_056993.2:p.Ser230Glnfs*4 |
1 |
0.000419% |
