NPC1 c.3170A>C ;(p.K1057T)

Variant ID: 18-21116712-T-G

NM_000271.4(NPC1):c.3170A>C;(p.K1057T)

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:

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Bmc Medical Genetics
Bountouvi, Evangelia E; Papadopoulou, Anna A; Vanier, Marie T MT; Nyktari, Georgia G; Kanellakis, Spyridon S; Michelakakis, Helen H; Dinopoulos, Argyrios A
Publication Date: 2017-05-04

Variant appearance in text: NPC1: 3170A>C
PubMed Link: 28472934
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_409.pdf
View BVdb publication page