NPC1 c.1322A>C ;(p.H441P)

Variant ID: 18-21136211-T-G

NM_000271.4(NPC1):c.1322A>C;(p.H441P)

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:

Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing.

Journal Of Veterinary Internal Medicine
Mauler, D A DA; Gandolfi, B B; Reinero, C R CR; O'Brien, D P DP; Spooner, J L JL; Lyons, L A LA; ,
Publication Date: 2017-03

Variant appearance in text: NPC1: 1322A>C; H441P
PubMed Link: 28233346
Variant Present in the following documents:
  • Main text
  • JVIM-31-539.pdf
View BVdb publication page