NPC1 c.3229C>T ;(p.R1077*)

Variant ID: 18-21116653-G-A

NM_000271.4(NPC1):c.3229C>T;(p.R1077*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Frontiers In Genetics
Chen, Fan F; Guo, Shan S; Li, Xuesong X; Liu, Shengxuan S; Wang, Li L; Zhang, Victor Wei VW; Xu, Hui H; Huang, Zhihua Z; Ying, Yanqin Y; Shu, Sainan S
Publication Date: 2022

Variant appearance in text: NPC1: 3229C>T; Arg1077*
PubMed Link: 35360843
Variant Present in the following documents:
  • Main text
  • fgene-13-845246.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: NPC1: 3229C>T
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.

Children (Basel, Switzerland)
Modin, Line L; Ng, Vicky V; Gissen, Paul P; Raiman, Julian J; Pfister, Eva Doreen ED; Das, Anibh A; Santer, René R; Faghfoury, Hanna H; Santra, Saikat S; Baumann, Ulrich U
Publication Date: 2021-09-17

Variant appearance in text: NPC1: Arg1077X
PubMed Link: 34572251
Variant Present in the following documents:
  • Main text
  • children-08-00819.pdf
View BVdb publication page



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: rs750095738
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R1077X
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