ABCG8 c.550C>T ;(p.R184C)

Variant ID: 2-44078950-C-T

NM_022437.2(ABCG8):c.550C>T;(p.R184C)

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:

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: ABCG8: 550C>T; R184C
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page