rs72645347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)].
|
17211858 |
2007 |
rs1555574303
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs66490707
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs66555264
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs67879854
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs72645357
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs72648326
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs72651642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs778598915
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs72653170
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease.
|
24390061 |
2014 |
rs72653170
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene.
|
21249479 |
2011 |
rs72653170
|
|
|
0.850 |
GeneticVariation |
BEFREE |
A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in families with the autosomal dominant form of ICH.
|
18704262 |
2008 |
rs72653170
|
|
|
0.850 |
GeneticVariation |
BEFREE |
A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation.
|
17309652 |
2007 |
rs72653170
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)].
|
17211858 |
2007 |
rs72653170
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
rs72653170
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
|
|
|