Retinitis pigmentosa 25
OMIM: 602772Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | EYS |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.403delA |
| A.A. Change | p.Thr135LeufsX7 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. |
| Gene Symbol | EYS |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.410_424del |
| A.A. Change | p.Thr135LeufsX25 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. |
| Gene Symbol | EYS |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.1211_1212insA |
| A.A. Change | p.Asn404LysfsX3 |
| Exon/Intron | exon 8 |
| Mutation Type | insertion |
| Reference | Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. |
| Gene Symbol | EYS |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.406G>T |
| A.A. Change | p.Val136Phe |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. |