rs971610277
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
rs878853341
|
GPHN;RDH12
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794729650
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
|
17964524 |
2007 |
rs527236099
|
GPHN;ZFYVE26;RDH12
|
Retinitis Pigmentosa
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906272
|
GPHN;RDH12
|
Retinitis Pigmentosa
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906272
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs386834261
|
GPHN;ZFYVE26;RDH12
|
Abnormality of the eye
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
|
23847139 |
2013 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
Retinal Dystrophies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
Leber Congenital Amaurosis
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs386834261
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
CausalMutation |
CLINVAR |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
|
16269441 |
2005 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
CausalMutation |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
CausalMutation |
CLINVAR |
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
|
17389517 |
2007 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
|
26047050 |
2015 |
rs386834261
|
GPHN;ZFYVE26;RDH12
|
Retinitis Pigmentosa
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs373032226
|
GPHN;RDH12
|
Amaurosis congenita of Leber, type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the six changes identified, three were novel including a homozygous C201R change in a patient affected with LCA, a heterozygous A177V change in patients affected with CORD and a heterozygous G46G change in a patient affected with LCA.
|
17512964 |
2007 |
rs373032226
|
GPHN;RDH12
|
Cone-Rod Dystrophy 2
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the six changes identified, three were novel including a homozygous C201R change in a patient affected with LCA, a heterozygous A177V change in patients affected with CORD and a heterozygous G46G change in a patient affected with LCA.
|
17512964 |
2007 |
rs368489658
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.700 |
GeneticVariation |
UNIPROT |
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
|
26124963 |
2015 |
rs368489658
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
|
19140180 |
2009 |
rs368489658
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
|
19956407 |
2009 |
rs28940315
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.800 |
CausalMutation |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
rs28940315
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.800 |
CausalMutation |
CLINVAR |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs28940315
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
rs28940315
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs28940315
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
|
24474277 |
2014 |