Gene ABCA4 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: ABCA4
Disorder: Retinal dystrophy
Allele Frequency: 0.0221943
Carrier Rate: 0.0434034
Max At-Risk Couples rate: 0.00188386
The table below lists all clinically relevant variants identified in the ABCA4 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 3 |
94473807 |
ABCA4 |
NM_000350.3:c.5882G>A |
NP_000341.2:p.Gly1961Glu |
40 |
0.01675% |
| 41 |
94520684 |
ABCA4 |
NM_000350.3:c.2570T>C |
p.Leu857Pro |
7 |
0.002931% |
| 162 |
94510248 |
ABCA4 |
NM_000350.3:c.2971G>C |
NP_000341.2:p.Gly991Arg |
2 |
0.000838% |
| 349 |
94490577 |
ABCA4 |
NM_000350.3:c.4567C>T |
p.Gln1523Ter |
1 |
0.000419% |
| 350 |
94508353 |
ABCA4 |
NM_000350.3:c.3292C>T |
NP_000341.2:p.Arg1098Cys |
1 |
0.000419% |
| 351 |
94526295 |
ABCA4 |
NM_000350.3:c.1958G>A |
NP_000341.2:p.Arg653His |
1 |
0.000419% |
| 352 |
94578618 |
ABCA4 |
NM_000350.3:c.71G>A |
NP_000341.2:p.Arg24His |
1 |
0.000419% |
