|
rs121918567
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
|
26796962 |
2016 |
|
rs121918567
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
|
20213611 |
2011 |
|
rs121918567
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
|
19038374 |
2009 |
|
rs121918567
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
|
16832026 |
2006 |
|
rs121918567
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs61755781
|
|
Adult-Onset Vitelliform Macular Dystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
|
22234150 |
2012 |
|
rs61755781
|
|
Adult-Onset Vitelliform Macular Dystrophy
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs61755789
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs61755789
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs61755794
|
|
Retinitis Pigmentosa 7
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs61755794
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs61755802
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
|
26796962 |
2016 |
|
rs61755802
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the RDS gene in an Italian family with pattern dystrophy.
|
16024869 |
2005 |
|
rs61755802
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.
|
9443872 |
1998 |
|
rs61755802
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
|
8485574 |
1993 |
|
rs61755802
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
|
26796962 |
2016 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
|
19038374 |
2009 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
|
16799052 |
2006 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
|
11485765 |
2001 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.
|
10627133 |
1998 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
|
7862413 |
1995 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
|
8020945 |
1994 |
|
rs61755806
|
|
Retinitis Pigmentosa 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
|
1427912 |
1992 |