NPC1 c.3235T>C ;(p.F1079L)

Variant ID: 18-21116647-A-G

NM_000271.4(NPC1):c.3235T>C;(p.F1079L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

International Journal Of Neonatal Screening
Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R
Publication Date: 2022-06-28

Variant appearance in text: NPC1: F1079L
PubMed Link: 35892469
Variant Present in the following documents:
  • IJNS-08-00039.pdf
View BVdb publication page



Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Journal Of Clinical Medicine
Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B
Publication Date: 2020-03-03

Variant appearance in text: NPC1: 3235T>C; F1079L
PubMed Link: 32138288
Variant Present in the following documents:
  • Main text
  • jcm-09-00679.pdf
View BVdb publication page



Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Acta Neuropathologica Communications
Dardis, A A; Zampieri, S S; Canterini, S S; Newell, K L KL; Stuani, C C; Murrell, J R JR; Ghetti, B B; Fiorenza, M T MT; Bembi, B B; Buratti, E E
Publication Date: 2016-05-18

Variant appearance in text: NPC1: 3235T>C; F1079L
PubMed Link: 27193329
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_325.pdf
View BVdb publication page