COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Ehlers-Danlos Syndrome, Type IV ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. 8411057 1993
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. 8514866 1993
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. 1352273 1992
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. 1496983 1992
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis. 1357232 1992
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. 2243125 1990
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. 2492273 1989
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. 2808425 1989
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.800 CausalMutation CLINVAR