ABCA1 c.1926C>G ;(p.L642=)

Variant ID: 9-107591386-G-C

NM_005502.3(ABCA1):c.1926C>G;(p.L642=)

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:

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

Journal Of Lipid Research
Tängemo, Carolina C; Weber, Dominik D; Theiss, Susanne S; Mengel, Eugen E; Runz, Heiko H
Publication Date: 2011-04

Variant appearance in text: ABCA1: 1926C>G
PubMed Link: 21245028
Variant Present in the following documents:
  • Main text
View BVdb publication page