NPC1 c.3558del ;(p.A1187Rfs*55)

Variant ID: 18-21114443-CG-C

NM_000271.4(NPC1):c.3558del;(p.A1187Rfs*55)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences
Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P
Publication Date: 2020-07-17

Variant appearance in text: NPC1: 3558delC
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page



Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases
Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P
Publication Date: 2014-09-19

Variant appearance in text: NPC1: 3558delC
PubMed Link: 25236789
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_140.pdf
View BVdb publication page