NPC1 c.3357T>A ;(p.C1119*)

Variant ID: 18-21115553-A-T

NM_000271.4(NPC1):c.3357T>A;(p.C1119*)

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:

The Spectrum of Niemann-Pick Type C Disease in Greece.

Jimd Reports
Mavridou, Irene I; Dimitriou, Evangelia E; Vanier, Marie T MT; Vilageliu, Lluisa L; Grinberg, Daniel D; Latour, Philippe P; Xaidara, Athina A; Lycopoulou, Lilia L; Bostantjopoulou, Sevasti S; Zafeiriou, Dimitrios D; Michelakakis, Helen H
Publication Date: 2017

Variant appearance in text: NPC1: C1119*
PubMed Link: 28105569
Variant Present in the following documents:
  • Main text
View BVdb publication page