Gene ABCC6 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: ABCC6
Disorder: Pseudoxanthoma elasticum
Allele Frequency: 0.00460637
Carrier Rate: 0.00917029
Max At-Risk Couples rate: 0.0000841
The table below lists all clinically relevant variants identified in the ABCC6 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 44 |
16256865 |
ABCC6 |
NM_001171.6:c.3491G>A |
NP_001162.5:p.Arg1164Gln |
7 |
0.002931% |
| 482 |
16257015 |
ABCC6 |
NM_001171.6:c.3341G>A |
NP_001162.5:p.Arg1114His |
1 |
0.000419% |
| 483 |
16284103 |
ABCC6 |
NM_001171.6:c.1553G>A |
NP_001162.5:p.Arg518Gln |
1 |
0.000419% |
| 484 |
16295902 |
ABCC6 |
NM_001171.6:c.1132C>T |
NP_001162.5:p.Gln378Ter |
1 |
0.000419% |
| 485 |
16315529 |
ABCC6 |
NM_001171.6:c.196dupT |
NP_001162.5:p.Ser66Phefs*35 |
1 |
0.000419% |
