NPC1 c.3800A>G ;(p.Y1267C)

Variant ID: 18-21112203-T-C

NM_000271.4(NPC1):c.3800A>G;(p.Y1267C)

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:

Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Genome Research
Erwood, Steven S; Brewer, Reid A RA; Bily, Teija M I TMI; Maino, Eleonora E; Zhou, Liangchi L; Cohn, Ronald D RD; Ivakine, Evgueni A EA
Publication Date: 2019-12

Variant appearance in text: NPC1: Y1267C
PubMed Link: 31754021
Variant Present in the following documents:
  • Main text
  • supp_gr.250720.119_SupplementalTables.xlsx, sheet 2
  • 2010.pdf
  • supp_gr.250720.119_Supplemental_Figures.pdf
View BVdb publication page