LDLR

LDLR

low density lipoprotein receptor

HCNC Approved Symbol: LDLR (HGNC:6547)
Genomic Coordinates: 19:11,089,463 - 11,133,820 (19p13.2)
Synonyms: LDLCQ2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

113Patients

In total, 113 patients were diagnosed with a variant in the LDLR gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

0113
Patient count

Hypercholesterolemia: 29 (25.7%)
Patient Count: 29 (25.7%)
% of total patients presenting each phenotype is shown in parentheses.
29 (25.7%)
Seizures: 8 (7.1%)
Patient Count: 8 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (7.1%)
Hyperlipidemia: 7 (6.2%)
Patient Count: 7 (6.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (6.2%)
Xanthomatosis: 7 (6.2%)
Patient Count: 7 (6.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (6.2%)
Global developmental delay: 6 (5.3%)
Patient Count: 6 (5.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (5.3%)

Last updated: 2024-06-30