E127Q (p.Glu127Gln) variant of NPC1 (O15118)
E127Q (p.Glu127Gln) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The record also includes published literature and structural context.
E127Q (p.Glu127Gln) variant details
- p.Glu127Gln
- rs2511341135
- ClinGen CA401785320
- ClinVar RCV002623015
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)