Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Retinitis pigmentosa 25

OMIM: 602772
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolEYS
Reference transcriptNM_001142800.1
DNA Changec.403delA
A.A. Changep.Thr135LeufsX7
Exon/Intronexon 4
Mutation Typedeletion
ReferenceBandah-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 SymbolEYS
Reference transcriptNM_001142800.1
DNA Changec.410_424del
A.A. Changep.Thr135LeufsX25
Exon/Intronexon 4
Mutation Typedeletion
ReferenceBandah-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 SymbolEYS
Reference transcriptNM_001142800.1
DNA Changec.1211_1212insA
A.A. Changep.Asn404LysfsX3
Exon/Intronexon 8
Mutation Typeinsertion
ReferenceBandah-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 SymbolEYS
Reference transcriptNM_001142800.1
DNA Changec.406G>T
A.A. Changep.Val136Phe
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceBandah-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.