Gene ABCA12 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: ABCA12
Disorder: Ichthyosis
Allele Frequency: 0.00670017
Carrier Rate: 0.0133106
Max At-Risk Couples rate: 0.000177171
The table below lists all clinically relevant variants identified in the ABCA12 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 16 |
215866360 |
ABCA12 |
NM_173076.3:c.2785C>T |
p.Arg929Cys |
16 |
0.0067% |
