NPC1 c.2464_2465insT ;(p.K822Ifs*48)

Variant ID: 18-21121081-T-TA

NM_000271.4(NPC1):c.2464_2465insT;(p.K822Ifs*48)

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:

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Bmc Neurology
Imrie, Jackie J; Heptinstall, Lesley L; Knight, Stephen S; Strong, Kate K
Publication Date: 2015-12-15

Variant appearance in text: NPC1: 2464_2465insT; Lys822IlefsX48
PubMed Link: 26666848
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_511.pdf
View BVdb publication page