NPC1 c.3561G>T ;(p.A1187=)

Variant ID: 18-21114440-C-A

NM_000271.4(NPC1):c.3561G>T;(p.A1187=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.

Scientific Reports
Touma, Lahoud L; Labrecque, Marjorie M; Tetreault, Martine M; Duquette, Antoine A
Publication Date: 2021-05-14

Variant appearance in text: NPC1: A1187A
PubMed Link: 33990640
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_89630.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NPC1: 3561G>T; Ala1187=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

Bmc Neurology
Cervera-Gaviria, Marivi M; Alcántara-Ortigoza, Miguel Angel MA; González-Del Angel, Ariadna A; Moyers-Pérez, Paola P; Legorreta-Ramírez, Blanca Gabriela Lizet BG; Barrera-Carmona, Nancy N; Cervera-Gaviria, Jaime J
Publication Date: 2016-08-22

Variant appearance in text: rs55724504
PubMed Link: 27549128
Variant Present in the following documents:
  • Main text
  • 12883_2016_Article_649.pdf
View BVdb publication page