RLBP1
Gene name: retinaldehyde binding protein 1OMIM ID: 180090
Chromosome location: 15q26.1
Mutations
| Disease/Phenotype | Retinitis punctata albescens |
|---|---|
| Reference transcript | NM_000326.4 |
| DNA Change | |
| A.A. Change | p.Tyr111X |
| Exon/Intron | |
| Mutation Type | substitution |
| Reference | Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. JAMA Ophthalmol. 2013 Oct;131(10):1314-23. |
| Disease/Phenotype | Retinitis punctata albescens |
|---|---|
| Reference transcript | NM_000326.4 |
| DNA Change | |
| A.A. Change | p.Arg9Cys |
| Exon/Intron | |
| Mutation Type | substitution |
| Reference | Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. JAMA Ophthalmol. 2013 Oct;131(10):1314-23. |
| Disease/Phenotype | Retinitis punctata albescens |
|---|---|
| DNA Change | 7.36kb deletion |
| A.A. Change | Frameshift |
| Exon/Intron | exons 7, 8, and 9 |
| Mutation Type | deletion |
| Reference | Humbert G, Delettre C, S?n?chal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, Hamel CP.Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4719-24. |
Variant not named according to HGVS recommendations