ABCG8 c.1444del ;(p.L482Wfs*40)

Variant ID: 2-44101578-AC-A

NM_022437.2(ABCG8):c.1444del;(p.L482Wfs*40)

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:

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

Jimd Reports
Kiss, Sharmila S; Lee, Joy Yaplito JY; Pitt, James J; MacGregor, Duncan D; Wallace, Jane J; Marty, Melanie M; Brown, Natasha J NJ
Publication Date: 2020-11

Variant appearance in text: ABCG8: 1444del; Leu482Trpfs*40
PubMed Link: 33204594
Variant Present in the following documents:
  • Main text
  • JMD2-56-34.pdf
View BVdb publication page