|
rs72653170
|
|
Cortical Congenital Hyperostosis
|
|
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
|
|
Cortical Congenital Hyperostosis
|
|
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
|
|
Cortical Congenital Hyperostosis
|
|
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
|
|
Cortical Congenital Hyperostosis
|
|
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
|
|
Cortical Congenital Hyperostosis
|
|
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
|
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
|
rs72653170
|
|
Cortical Congenital Hyperostosis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
|
17875077 |
2007 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
|
9600458 |
1998 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
|
7982948 |
1994 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
|
7691343 |
1993 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
|
8094076 |
1993 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
|
8339541 |
1993 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
|
1770532 |
1991 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
|
1988452 |
1991 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
|
2745420 |
1989 |
|
rs66721653
|
|
Osteogenesis imperfecta type IV (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs72645331
|
|
Lobstein Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
|
24682174 |
2014 |
|
rs72645331
|
|
Lobstein Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.
|
18670065 |
2008 |
|
rs72645331
|
|
Lobstein Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
|
17875077 |
2007 |
|
rs72645331
|
|
Lobstein Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
rs72645331
|
|
Lobstein Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].
|
16638323 |
2006 |