Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABCG8 c.47C>T ;(p.T16I)
Variant ID: 2-44066239-C-T
NM_022437.2(
ABCG8
):c.47C>T;(p.T16I)
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:
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
Jimd Reports
Tada, Hayato H; Kawashiri, Masa-Aki MA; Takata, Mutsuko M; Matsunami, Kunihiro K; Imamura, Atsushi A; Matsuyama, Misayo M; Sawada, Hirotake H; Nunoi, Hiroyuki H; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Kobayashi, Junji J; Mabuchi, Hiroshi H; Yamagishi, Masakazu M
Publication Date: 2015
Variant appearance in text: ABCG8: 47C>T
PubMed Link:
25665839
Variant Present in the following documents:
Main text
View BVdb publication page