NPC1 c.712T>C ;(p.C238R)

Variant ID: 18-21140364-A-G

NM_000271.4(NPC1):c.712T>C;(p.C238R)

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:

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.

Metabolic Brain Disease
Sitarska, Dominika D; Ługowska, Agnieszka A
Publication Date: 2019-10

Variant appearance in text: NPC1: Cys238Arg
PubMed Link: 31197681
Variant Present in the following documents:
  • Main text
  • 11011_2019_Article_445.pdf
View BVdb publication page