Gene EXPH5 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: EXPH5
Disorder: Epidermolysis bullosa, junctional
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 EXPH5 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 173 |
108385580 |
EXPH5 |
NM_015065.3:c.654_655insG |
NP_055880.2:p.Leu219Valfs*32 |
2 |
0.000838% |
| 371 |
108409869 |
EXPH5 |
NM_015065.3:c.325C>T |
NP_055880.2:p.Gln109Ter |
1 |
0.000419% |
