rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
|
29595812 |
2018 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
|
27510842 |
2017 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
26177859 |
2015 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
|
16816023 |
2006 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
|
15241796 |
2004 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
|
15077201 |
2004 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.
|
11288717 |
2001 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.
|
3372533 |
1988 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
|
2993307 |
1985 |
rs72659310
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
|
6092353 |
1984 |