LDLR c.*338G>A

Variant ID: 19-11242330-G-A

NM_000527.4(LDLR):c.*338G>A

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:

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J
Publication Date: 2015-09-28

Variant appearance in text: rs17249029
PubMed Link: 26415676
Variant Present in the following documents:
View BVdb publication page