NPC1 c.680G>C ;(p.C227S)

Variant ID: 18-21140396-C-G

NM_000271.4(NPC1):c.680G>C;(p.C227S)

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:

Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Journal Of Neurology
Sedel, Frédéric F; Chabrol, Brigitte B; Audoin, Bertrand B; Kaphan, Elsa E; Tranchant, Christine C; Burzykowski, Tomasz T; Tourbah, Ayman A; Vanier, Marie T MT; Galanaud, Damien D
Publication Date: 2016-05

Variant appearance in text: NPC1: C227S
PubMed Link: 26984608
Variant Present in the following documents:
  • Main text
  • 415_2016_Article_8051.pdf
View BVdb publication page