APOB

Date of Report

Feb 04, 2025

Full Name

APOB

Location

Chromosome 2 (2p24.1)

APOB-2p24.1.png

Function

This gene encodes for a protein, apolipoprotein B, which is the main apolipoprotein on chylomicrons and low-density lipoproteins [provided by RefSeq, Dec 2019]

Database Links

GeneCards: APOB

MedlinePlus Genetics: APOB

NCBI Gene: 338

OMIM: 107730

UniProtKB/Swiss-Prot: P04114

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene APOB

Inheritance Pattern Unknown

Position (hg19) chr2:g.21255247G>A

Transcript NM_000384.3

DNA Change c.1331C>T

Protein Change p.Ala444Val

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