APOB

APOB

apolipoprotein B

HCNC Approved Symbol: APOB (HGNC:603)
Genomic Coordinates: 2:21,001,429 - 21,044,073 (2p24.1)
Synonyms: ApoB-100
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the APOB gene.

Frequently observed phenotypes(Top 5 only)

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

08
Patient count

Epilepsy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Macrocephaly: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hypercholesterolemia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Clubbing: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Constipation: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)

Last updated: 2024-06-30