L9S (p.Leu9Ser) variant of GJB1 (Gap junction beta-1 protein)
L9S (p.Leu9Ser) 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; not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
L9S (p.Leu9Ser) variant details
- p.Leu9Ser
- rs1569214971
- ClinGen CA413499414
- ClinVar RCV000711354
- ClinVar RCV001068645
- Uncertain significance
- Inborn genetic diseases; not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Charcot-Marie-Tooth Neuro)
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- 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)