LP172700-9
APOB gene.p.Arg3500Gln & Arg3500Trp
Active
Description
The APOB gene encodes apoliprotein B, a primary protein component of low-density lipoprotein (LDL or "bad" cholesterol), very low-density lipoprotein (VLDL) and chylomicrons. [UniProt: P04114] Mutations in the APOB gene that affect the LDL receptor binding region are associated familial ligand-defective apoB-100 hypercholesterolemia (FDB). The most common mutation known to be associated with FDB is p.Arg3500Gln (R3500Q), although a second mutation in the same codon, p.Arg3500Trp (R3500W), is associated with FDB in certain populations. PMID: 15308601 Source: Regenstrief LOINC, PMID: 15308601
Basic Part Properties
- Part Name
- APOB gene.p.Arg3500Gln & Arg3500Trp
- Part Display Name
- APOB gene p.Arg3500Gln and p.Arg3500Trp
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-02-25
- Construct for LOINC Short Name
- APOB R3500Q+R3500W
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | APOB 基因.p.R3500Q 与 R3500W Synonyms: APOB 基因.p.R3500Q 与 R3500W |
| es-ES | Spanish (Spain) | Gen APOB p.Arg3500Gln & Arg3500Trp |
| it-IT | Italian (Italy) | APOB, gene.p.Arg3500Gln & Arg3500Trp Synonyms: Gene APOB p.Arg3500Gln & Arg3500Trp |
| tr-TR | Turkish (Turkey) | APOB geni.p.R3500Q & R3500W |
| ru-RU | Russian (Russian Federation) | APOB ген.p.R3500Q & R3500W |
| nl-NL | Dutch (Netherlands) | APOB-gen.p.R3500Q & R3500W Synonyms: APOB gen.p.R3500Q & R3500W |
| fr-FR | French (France) | APOB gène p.Arg3500Gln et Arg3500Trp |
| pl-PL | Polish (Poland) | APOB gen.p.Arg3500Gln & Arg3500Trp Synonyms: Warianty genu APOB p.Arg3500Gln i p.Arg3500Trp |
| el-GR | Greek (Greece) | Γονίδιο APOB p.Arg3500Gln & Arg3500Trp Synonyms: Γονίδιο APOB p.Arg3500Gln & Arg3500Trp |
LOINC Copyright
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