NPC1 c.3485G>A ;(p.G1162D)

Variant ID: 18-21114516-C-T

NM_000271.4(NPC1):c.3485G>A;(p.G1162D)

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:

Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Jimd Reports
Harzer, Klaus K; Beck-Wödl, Stefanie S; Bauer, Peter P
Publication Date: 2014

Variant appearance in text: NPC1: 3485G>A
PubMed Link: 23821321
Variant Present in the following documents:
  • Main text
View BVdb publication page