F31C (p.Phe31Cys) variant of GJB1 (Gap junction beta-1 protein)
F31C (p.Phe31Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
F31C (p.Phe31Cys) variant details
- p.Phe31Cys
- rs2147945057
- ClinGen CA413500874
- ClinVar RCV001989596
- ClinVar RCV002370679
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)