NPC1 c.530G>A ;(p.C177Y)

Variant ID: 18-21141425-C-T

NM_000271.4(NPC1):c.530G>A;(p.C177Y)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: 530G>A
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences
Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P
Publication Date: 2020-07-17

Variant appearance in text: NPC1: 530G>A; C177Y
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page



Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
Publication Date: 2019-11-07

Variant appearance in text: NPC1: C177Y
PubMed Link: 31699992
Variant Present in the following documents:
  • 41467_2019_12969_MOESM1_ESM.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: NPC1: 530G>A; Cys177Tyr; rs80358252
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics
Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE
Publication Date: 2020-01-01

Variant appearance in text: NPC1: C177Y
PubMed Link: 31509197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology
Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R
Publication Date: 2019

Variant appearance in text: NPC1: 530G>A; Cys177Tyr; rs80358252
PubMed Link: 30985853
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: NPC1: 530G>A; Cys177Tyr; rs80358252
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NPC1: 530G>A; Cys177Tyr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

Journal Of Translational Medicine
De Castro-Orós, Isabel I; Irún, Pilar P; Cebolla, Jorge Javier JJ; Rodriguez-Sureda, Victor V; Mallén, Miguel M; Pueyo, María Jesús MJ; Mozas, Pilar P; Dominguez, Carmen C; Pocoví, Miguel M; ,
Publication Date: 2017-02-21

Variant appearance in text: NPC1: Cys177Tyr
PubMed Link: 28222799
Variant Present in the following documents:
  • Main text
  • 12967_2017_Article_1146.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NPC1: C177Y
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NPC1: C177Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page