COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Czech dysplasia, metatarsal type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation BEFREE The p.(Arg275Cys) substitution is found in all patients with COL2A1-associated Czech dysplasia. 26443184 2016
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation BEFREE A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. 19764028 2009
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation UNIPROT A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. 19764028 2009
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation BEFREE Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. 18553548 2008
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation UNIPROT Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders. 18553548 2008
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation BEFREE The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia. 17726487 2007
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation UNIPROT Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. 7757086 1995
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		0.840 GeneticVariation UNIPROT Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 8244341 1993
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		A 0.840 CausalMutation CLINVAR
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type 		T 0.700 CausalMutation CLINVAR