|
rs72645347
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant.
|
31531849 |
2020 |
|
rs72645347
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
|
28102596 |
2017 |
|
rs72645347
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen.
|
17211858 |
2007 |
|
rs72654799
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All three children are compound heterozygotes for COL1A1 mutations, with a novel frameshift mutation (c.2522delC; p.Pro841Leufs*266) from their mother and a known missense mutation (c.3196C>T; p.R1066C) from their clinically unaffected father, which has previously been described as causing a combined type I OI/EDS phenotype.
|
28436160 |
2017 |
|
rs72654799
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
|
17206620 |
2007 |
|
rs72648365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen.
|
17211858 |
2007 |
|
rs72653170
|
|
|
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 |
|
rs72656307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen.
|
17211858 |
2007 |
|
rs886440452
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
|
17206620 |
2007 |
|
rs67682641
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet.
|
11992482 |
2002 |