Geno
|
Mag
|
Summary
|
(C;C)
|
0
|
common in complete genomics
|
(C;G)
|
3
|
Carrier of a mutation for Stargardt disease
|
(G;G)
|
6
|
Stargardt disease
|
aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu)
On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, rs61751406, in a haplotype also listed in ClinVar.
ClinVar
|
Risk
|
Rs41292677(G;G) |
Alt
|
Rs41292677(G;G) |
Reference
|
Rs41292677(C;C) |
Significance |
Other |
Disease |
Stargardt disease 1 not provided not specified Cone-Rod Dystrophy Stargardt Disease Retinitis Pigmentosa Macular degeneration |
Variation | info |
---|
Gene |
ABCA4 |
CLNDBN |
Stargardt disease 1 not provided not specified Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Macular degeneration |
Reversed |
0 |
HGVS |
NC_000001.10:g.94467548C>G |
CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000008335.5, RCV000078671.7, RCV000259072.1, RCV000285333.1, RCV000340261.1, RCV000393715.1, RCV000393726.1, RCV000408516.1, |