NPC1 c.3591+1G>A

Variant ID: 18-21114409-C-T

NM_000271.4(NPC1):c.3591+1G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02

Variant appearance in text: rs786200877
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 3591+1G>A
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page



Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

Bmc Medical Genetics
Degtyareva, Anna V AV; Proshlyakova, Tatiana Y TY; Gautier, Marina S MS; Degtyarev, Dmitry N DN; Kamenets, Elena A EA; Baydakova, Galina V GV; Rebrikov, Denis V DV; Zakharova, Ekaterina Y EY
Publication Date: 2019-07-11

Variant appearance in text: rs786200877
PubMed Link: 31296176
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_857.pdf
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: NPC1: 3591+1G>A; rs786200877
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
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: 3591+1G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 3591+1G>A
PubMed Link: 25236789
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_140.pdf
View BVdb publication page