ABCG8 c.1500G>T ;(p.E500D)

Variant ID: 2-44102296-G-T

NM_022437.2(ABCG8):c.1500G>T;(p.E500D)

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:

Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: ABCG8: Glu500Asp
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page


Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: ABCG8: Glu500Asp
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page