NPC1 c.2886_2895del ;(p.T963Sfs*17)

Variant ID: 18-21119335-ACTGGTCAGTG-A

NM_000271.4(NPC1):c.2886_2895del;(p.T963Sfs*17)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

Wellcome Open Research
Evans, William R H WRH; Nicoli, Elena-Raluca ER; Wang, Raymond Y RY; Movsesyan, Nina N; Platt, Frances M FM
Publication Date: 2017

Variant appearance in text: NPC1: 2886_2895del
PubMed Link: 29119141
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-2-12809.pdf
View BVdb publication page