E41D (p.Glu41Asp) variant of GJB1 (Gap junction beta-1 protein)
E41D (p.Glu41Asp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CMTX1. The record also includes published literature and structural context.
E41D (p.Glu41Asp) variant details
- p.Glu41Asp
- rs116840816
- ClinGen CA341591
- ClinVar RCV000020169
- ClinVar RCV000789264
- Uncertain significance
- in CMTX1
- Missense
- 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: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)