Gene ANO5 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: ANO5
Disorder: Muscular dystrophy, limb girdle 2L
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the ANO5 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 79 |
22239825 |
ANO5 |
NM_213599.3:c.172C>T |
NP_998764.1:p.Arg58Trp |
4 |
0.001675% |
| 383 |
22283777 |
ANO5 |
NM_213599.3:c.1733T>C |
NP_998764.1:p.Phe578Ser |
1 |
0.000419% |
