Gene ITGB3 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: ITGB3
Disorder: Bleeding disorder
Allele Frequency: 0.00628141
Carrier Rate: 0.0124839
Max At-Risk Couples rate: 0.000155848
The table below lists all clinically relevant variants identified in the ITGB3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 21 |
45361880 |
ITGB3 |
NM_000212.3:c.433G>A |
p.Asp145Asn |
15 |
0.006281% |
