rs62625014
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs62625014
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
|
28981474 |
2017 |
rs199584830
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
|
26306921 |
2015 |
rs567961453
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
|
25611614 |
2015 |
rs62625014
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
rs62625014
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
|
7479749 |
1995 |
rs199636364
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs375412499
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236057
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236058
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236059
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs544588016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mut CNGA1 p.(G513R) protein was largely retained inside the cell rather than being targeted to the plasma membrane, suggesting the absence of cGMP-gated cation channels in the plasma membrane would be deleterious to rod photoreceptors, leading lead to RP.
|
26802146 |
2016 |