96969-1
MYD88 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP212147-5 MYD88 gene
The MYD88 gene, located on chromosome 3, encodes the myeloid differentiation primary response protein MyD88. Germline mutations in MYD88 are associated with a disorder called MyD88 deficiency, which is characterized by recurrent bacterial infections. A specific somatic mutation in the MYD88 gene involving replacement of the amino acid leucine by proline at position 265 (Leu265Pro) is found in more than 90% of patients with Waldenstrom macroglobulinemia, a type of blood cancer associated with excessive production of IgM. This same mutation is also found in more than half of patients with IgM monoclonal gammopathy of undetermined significance (IgM-MGUS) as well as some patients with diffuse large B-cell lymphoma (DLBCL) and marginal zone lymphoma. [MedlinePlus Gene: MYD88]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- MYD88 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- MYD88 Mut Anl Bld/T
- Display Name
- MYD88 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MYD88 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen MYD88 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MYD88: |
fr-FR | French (France) | MYD88 gène mutation cible trouvée: |
it-IT | Italian (Italy) | MYD88, gene analisi di mutazione mirata: Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MYD88-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | MYD88 基因 突变分析: Synonyms: MYD88 Innate Immune Signal Transduction Adaptor gene; |
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