Gene ADGRV1 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: ADGRV1
Disorder: Deafness, non-syndromic, autosomal recessive
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the ADGRV1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 712 |
89953962 |
ADGRV1 |
NM_032119.4:c.4619T>A |
NP_115495.3:p.Leu1540Ter |
1 |
0.000419% |
| 713 |
90020647 |
ADGRV1 |
NM_032119.4:c.9749-2delA |
|
1 |
0.000419% |
