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NPC1 c.2656G>C ;(p.G886R)
Variant ID: 18-21119914-C-G
NM_000271.4(
NPC1
):c.2656G>C;(p.G886R)
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: 2656G>C; Gly886Arg
PubMed Link:
26666848
Variant Present in the following documents:
Main text
12883_2015_Article_511.pdf
View BVdb publication page