COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. 12694234 2003
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. 12786757 2003
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. 10923041 2000
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896 2000
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. 9452103 1998
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. 9036918 1997
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. 8990011 1997
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. 8884076 1996
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. 8664902 1996
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. 7749417 1995
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. 8019562 1994
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. 7912131 1994
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation BEFREE Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. 8019562 1994
dbSNP: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 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: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 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: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 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: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 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: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 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: rs587779428
rs587779428
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
0.810 GeneticVariation UNIPROT A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. 2243125 1990