NPC1 c.3243C>A ;(p.Y1081*)

Variant ID: 18-21116639-G-T

NM_000271.4(NPC1):c.3243C>A;(p.Y1081*)

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:

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Orphanet Journal Of Rare Diseases
Abela, Lucia L; Plecko, Barbara B; Palla, Antonella A; Burda, Patricie P; Nuoffer, Jean-Marc JM; Ballhausen, Diana D; Rohrbach, Marianne M
Publication Date: 2014-11-26

Variant appearance in text: NPC1: Tyr1081*
PubMed Link: 25425405
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_176.pdf
View BVdb publication page