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 |
rs17852293
|
GPHN;RDH12
|
Amaurosis congenita of Leber, type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel compound heterozygote T49M/A269fsX270 mutation was also found in a patient with LCA, and both homozygous and heterozygous R161Q changes were seen in 26 patients affected with LCA, CORD or RP.
|
17512964 |
2007 |
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 |
rs28940314
|
GPHN;RDH12
|
Cone-Rod Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs116733939
|
GPHN;RDH12
|
Leber Congenital Amaurosis
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs386834261
|
GPHN;ZFYVE26;RDH12
|
Leber Congenital Amaurosis
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894470
|
GPHN;RDH12
|
Leber Congenital Amaurosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.
|
17389517 |
2007 |
rs104894474
|
GPHN;RDH12
|
Leber Congenital Amaurosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.
|
17389517 |
2007 |
rs104894472
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs104894472
|
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 |
rs104894472
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894473
|
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 |
rs104894473
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894473
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs104894475
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894475
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs104894475
|
GPHN;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894475
|
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 |
rs104894476
|
GPHN;ZFYVE26;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 |
rs104894476
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894476
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs28940313
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs28940313
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
rs28940313
|
GPHN;ZFYVE26;RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|