ABCG8 c.1257C>A ;(p.I419=)

Variant ID: 2-44100971-C-A

NM_022437.2(ABCG8):c.1257C>A;(p.I419=)

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:

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Human Genome Variation
Hashimoto, Nobuhiro N; Dateki, Sumito S; Suzuki, Eri E; Tsuchihashi, Takatoshi T; Isobe, Aiko A; Banno, Sari S; Kageyama, Tomoka T; Maeda, Naonori N; Hatabu, Naomi N; Sato, Rieko R; Miharu, Masashi M; Fujita, Hisayo H; Komiyama, Osamu O; Shimizu, Hitomi H; Hasegawa, Tomonobu T; Yamazawa, Kazuki K
Publication Date: 2020

Variant appearance in text: ABCG8: Ile419Ile; rs200818073
PubMed Link: 33014402
Variant Present in the following documents:
  • Main text
  • 41439_2020_Article_112.pdf
View BVdb publication page