rs62637014
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Leber congenital amaurosis mutation |
| (G;G) | 0 | common in clinvar |
| Make rs62637014(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 6425781 |
| Gene | AIPL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62637014 |
| dbSNP (classic) | rs62637014 |
| ClinGen | rs62637014 |
| ebi | rs62637014 |
| HLI | rs62637014 |
| Exac | rs62637014 |
| Gnomad | rs62637014 |
| Varsome | rs62637014 |
| LitVar | rs62637014 |
| Map | rs62637014 |
| PheGenI | rs62637014 |
| Biobank | rs62637014 |
| 1000 genomes | rs62637014 |
| hgdp | rs62637014 |
| ensembl | rs62637014 |
| geneview | rs62637014 |
| scholar | rs62637014 |
| rs62637014 | |
| pharmgkb | rs62637014 |
| gwascentral | rs62637014 |
| openSNP | rs62637014 |
| 23andMe | rs62637014 |
| SNPshot | rs62637014 |
| SNPdbe | rs62637014 |
| MSV3d | rs62637014 |
| GWAS Ctlg | rs62637014 |
| GMAF | 0.0 |
| Max Magnitude | 3 |
aka c.834G>A (p.Trp278Ter or W278X)
This recessively inherited mutation is considered the most common AIPL1 variant leading to Leber congenital amaurosis type 4 (LCA4).
[PMID 22412862
] Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
| ClinVar | |
|---|---|
| Risk | rs62637014(A;A) |
| Alt | rs62637014(A;A) |
| Reference | Rs62637014(G;G) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 4 not provided AIPL1-Related Disorders |
| Variation | info |
| Gene | AIPL1 |
| CLNDBN | Leber congenital amaurosis 4 not provided AIPL1-Related Disorders |
| Reversed | 1 |
| HGVS | NC_000017.10:g.6329101C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005906.5, RCV000086235.1, RCV000365317.1, |
