NPC1 c.2186G>A ;(p.G729E)

Variant ID: 18-21123478-C-T

NM_000271.4(NPC1):c.2186G>A;(p.G729E)

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:

Patient with Niemann-Pick disease type C: over 20 years' follow-up.

Bmj Case Reports
Abe, Kazuo K; Sakai, Norio N
Publication Date: 2017-08-22

Variant appearance in text: NPC1: 2186G>A; G729E
PubMed Link: 28830896
Variant Present in the following documents:
  • Main text
  • bcr-2017-220134.pdf
View BVdb publication page