ABCA1 c.523G>C ;(p.A175P)

Variant ID: 9-107623980-C-G

NM_005502.3(ABCA1):c.523G>C;(p.A175P)

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:

Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases
Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF
Publication Date: 2016

Variant appearance in text: ABCA1: Ala175Pro
PubMed Link: 27565770
Variant Present in the following documents:
  • Main text
View BVdb publication page