NPC1 c.1756G>A ;(p.E586K)

Variant ID: 18-21127971-C-T

NM_000271.4(NPC1):c.1756G>A;(p.E586K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02

Variant appearance in text: rs369753548
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01

Variant appearance in text: NPC1: 1756G>A; E586K; rs369753548
PubMed Link: 25764212
Variant Present in the following documents:
  • Main text
  • emss-62276.pdf
View BVdb publication page