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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.

Diagnosed Cases

8Patients

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

Frequently observed phenotypes

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

Epilepsy
 2 (25.0%)
Macrocephaly
 2 (25.0%)
Hypercholesterolemia
 2 (25.0%)
Clubbing
 
1 (12.5%)
Constipation
 
1 (12.5%)
APOB - Gene browser | 3billion