Bibliome.ai browser hg19
Search
About
Stats
FAQ
NPC1 c.1904T>C ;(p.I635T)
Variant ID: 18-21124967-A-G
NM_000271.4(
NPC1
):c.1904T>C;(p.I635T)
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: I635T
PubMed Link:
31754021
Variant Present in the following documents:
Main text
2010.pdf
supp_gr.250720.119_SupplementalTables.xlsx, sheet 2
View BVdb publication page