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NPC1 c.2438C>G ;(p.S813*)
Variant ID: 18-21121108-G-C
NM_000271.4(
NPC1
):c.2438C>G;(p.S813*)
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:
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: NPC1: 2438C>G; S813X
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.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: 2438C>G; S813X
PubMed Link:
32709131
Variant Present in the following documents:
Main text
ijms-21-05059.pdf
View BVdb publication page