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NPC1 c.1255A>G ;(p.I419V)
Variant ID: 18-21136278-T-C
NM_000271.4(
NPC1
):c.1255A>G;(p.I419V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02
Variant appearance in text: rs772847092
PubMed Link:
33139814
Variant Present in the following documents:
41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells.
The Journal Of Infectious Diseases
Kondoh, Tatsunari T; Letko, Michael M; Munster, Vincent J VJ; Manzoor, Rashid R; Maruyama, Junki J; Furuyama, Wakako W; Miyamoto, Hiroko H; Shigeno, Asako A; Fujikura, Daisuke D; Takadate, Yoshihiro Y; Yoshida, Reiko R; Igarashi, Manabu M; Feldmann, Heinz H; Marzi, Andrea A; Takada, Ayato A
Publication Date: 2018-11-22
Variant appearance in text: NPC1: I419V; rs772847092
PubMed Link:
30010949
Variant Present in the following documents:
Main text
View BVdb publication page