rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
|
1971141 |
1990 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
|
20179744 |
2010 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
|
26626311 |
2016 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.
|
9724608 |
1998 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
|
22791362 |
2012 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.
|
26358419 |
2016 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
|
25604898 |
2015 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Association between Kniest dysplasia and chondrosarcoma in a child.
|
26345137 |
2015 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and Molecular genetics of Stickler syndrome.
|
10353778 |
1999 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
|
26250472 |
2015 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Basic helix-loop-helix factors in cortical development.
|
12848929 |
2003 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs1555165501
|
COL2A1;LOC105369752
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
|
12925722 |
2003 |