NPC1 c.1484T>C ;(p.L495P)

Variant ID: 18-21134791-A-G

NM_000271.4(NPC1):c.1484T>C;(p.L495P)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Molecular Genetics & Genomic Medicine
Hong, Sha S; Wang, Li L; Zhao, Dongying D; Zhang, Yonghong Y; Chen, Yan Y; Tan, Jintong J; Liang, Lili L; Zhu, Tianwen T
Publication Date: 2019-06

Variant appearance in text: NPC1: 1484T>C; L495P
PubMed Link: 30968598
Variant Present in the following documents:
  • Main text
  • MGG3-7-e684.pdf
View BVdb publication page