NPC1 c.2000C>G ;(p.S667W)

Variant ID: 18-21124438-G-C

NM_000271.4(NPC1):c.2000C>G;(p.S667W)

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: 2000C>G; Ser667Trp
PubMed Link: 26666848
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_511.pdf
View BVdb publication page