Gene COL7A1 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: COL7A1
Disorder: EBD
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 COL7A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 675 |
48603069 |
COL7A1 |
NM_000094.4:c.8440C>T |
NP_000085.1:p.Arg2814Ter |
1 |
0.000419% |
| 676 |
48610345 |
COL7A1 |
NM_000094.4:c.6781C>T |
NP_000085.1:p.Arg2261Ter |
1 |
0.000419% |
| 677 |
48610470 |
COL7A1 |
NM_000094.3:c.6734G>A |
p.Gly2245Asp |
1 |
0.000419% |
