NPC1 c.3722T>C ;(p.L1241S)

Variant ID: 18-21113351-A-G

NM_000271.4(NPC1):c.3722T>C;(p.L1241S)

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:

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Bmc Neurology
Kawazoe, Tomoya T; Yamamoto, Toshiyuki T; Narita, Aya A; Ohno, Kousaku K; Adachi, Kaori K; Nanba, Eiji E; Noguchi, Atsuko A; Takahashi, Tsutomu T; Maekawa, Masamitsu M; Eto, Yoshikatsu Y; Ogawa, Masafumi M; Murata, Miho M; Takahashi, Yuji Y
Publication Date: 2018-08-17

Variant appearance in text: NPC1: L1241S
PubMed Link: 30119649
Variant Present in the following documents:
  • Main text
  • 12883_2018_Article_1124.pdf
View BVdb publication page