|
rs111033578
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients.
|
29721928 |
2018 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
BEFREE |
To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Protein 5 (C1QTNF5) has been shown to cause L-ORD in a subset of affected families.
|
28939808 |
2017 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The lack of rd8-associated retinal pathology in the Ctrp5+/-;wt/wt mouse model raised on the C57BL/6J background and the development of the L-ORD phenotype in these mice in the presence and absence of the rd8 mutation suggests that the pathology observed in the Ctrp5+/-;wt/wt mice is primarily associated with the S163R mutation in the Ctrp5 gene.
|
25814825 |
2015 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Two additional mutations linked to different forms of retinal dystrophies were identified in two families: a known frameshift deletion in RPGR, a gene responsible for X-linked retinitis pigmentosa and p.Ser163Arg in C1QTNF5 associated with Late-Onset Retinal Degeneration.
|
26197217 |
2015 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.
|
22892318 |
2012 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals.
|
12944416 |
2003 |
|
rs111033578
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals.
|
12944416 |
2003 |
|
rs111033578
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
|
rs111033578
|
|
C |
0.850 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1345823874
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients.
|
29721928 |
2018 |
|
rs768275592
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients.
|
29721928 |
2018 |
|
rs1345823874
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The lack of rd8-associated retinal pathology in the Ctrp5+/-;wt/wt mouse model raised on the C57BL/6J background and the development of the L-ORD phenotype in these mice in the presence and absence of the rd8 mutation suggests that the pathology observed in the Ctrp5+/-;wt/wt mice is primarily associated with the S163R mutation in the Ctrp5 gene.
|
25814825 |
2015 |
|
rs768275592
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The lack of rd8-associated retinal pathology in the Ctrp5+/-;wt/wt mouse model raised on the C57BL/6J background and the development of the L-ORD phenotype in these mice in the presence and absence of the rd8 mutation suggests that the pathology observed in the Ctrp5+/-;wt/wt mice is primarily associated with the S163R mutation in the Ctrp5 gene.
|
25814825 |
2015 |