ABCG8 c.1226A>T ;(p.N409I)

Variant ID: 2-44100940-A-T

NM_022437.2(ABCG8):c.1226A>T;(p.N409I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 1226A>T; Asn409Ile
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.

Lipids In Health And Disease
Tada, Hayato H; Okada, Hirofumi H; Nomura, Akihiro A; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020-01-04

Variant appearance in text: ABCG8: Asn409Ile
PubMed Link: 31901240
Variant Present in the following documents:
  • Main text
  • 12944_2019_Article_1183.pdf
View BVdb publication page