NPC1 c.1433A>C ;(p.N478T)

Variant ID: 18-21134842-T-G

NM_000271.4(NPC1):c.1433A>C;(p.N478T)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: NPC1: Asn478Thr
PubMed Link: 35086560
Variant Present in the following documents:
  • Main text
  • 41065_2022_Article_224.pdf
View BVdb publication page


Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: NPC1: Asn478Thr
PubMed Link: 35086560
Variant Present in the following documents:
  • Main text
  • 41065_2022_Article_224.pdf
View BVdb publication page


Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Bayat, Fatemeh F; Razipour, Masoumeh M; Karimipoor, Morteza M; Taghavi-Basmenj, Maryam M; Zeinali, Sirous S; Davoudi-Dehaghani, Elham E
Publication Date: 2019

Variant appearance in text: NPC1: 1433A>C; Asn478Thr
PubMed Link: 32280632
Variant Present in the following documents:
  • Main text
  • mjiri-33-126.pdf
View BVdb publication page