T1036A (p.Thr1036Ala) variant of NPC1 (O15118)
T1036A (p.Thr1036Ala) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The record also includes published literature and structural context.
T1036A (p.Thr1036Ala) variant details
- p.Thr1036Ala
- rs2511197628
- ClinGen CA401791930
- ClinVar RCV003606675
- ClinVar RCV005419686
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)