I66R (p.Ile66Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
I66R (p.Ile66Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The record also includes published literature and structural context.
I66R (p.Ile66Arg) variant details
- p.Ile66Arg
- rs2469106201
- ClinGen CA349847174
- ClinVar RCV004016552
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)