Gene OBSL1 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: OBSL1
Disorder: Cardiomyopathy, dilated
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the OBSL1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 242 |
220416351 |
OBSL1 |
NM_015311.3:c.5583dupC |
NP_056126.1:p.Thr1862Hisfs*8 |
2 |
0.000838% |
| 243 |
220416843 |
OBSL1 |
NM_015311.3:c.5404G>T |
NP_056126.1:p.Glu1802Ter |
2 |
0.000838% |
| 244 |
220422108 |
OBSL1 |
NM_015311.3:c.4023C>A |
NP_056126.1:p.Cys1341Ter |
2 |
0.000838% |
| 594 |
220435440 |
OBSL1 |
NM_015311.3:c.515G>A |
NP_056126.1:p.Trp172Ter |
1 |
0.000419% |
