Gene COL17A1 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: COL17A1
Disorder: Epithelial recurrent erosion dystrophy
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 COL17A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 62 |
105796248 |
COL17A1 |
NM_000494.4:c.3418+2delT |
|
5 |
0.002094% |
| 164 |
105793951 |
COL17A1 |
NM_000494.4:c.3908G>A |
NP_000485.3:p.Arg1303Gln |
2 |
0.000838% |
