35688-1GBA gene c.1448T>G and 1448T>C [Presence] in Blood or Tissue by Molecular genetics methodActive
Term Description
2 possible substitutions
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- GBA gene.c.1448T>G & 1448T>C
- Property
- Arb
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- GBA c.1448T>G & 1448T>C Bld/T Ql
- Display Name
- GBA gene c.1448T>G and 1448T>C Molgen Ql (Bld/Tiss)
- Consumer Name Alpha
- GBA gene c.1448T>G and 1448T>C, Blood or tissue specimen
Example Answer List LL744-4
Source: Regenstrief Institute
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Detected | LA11882-0 | ||
| Not detected | LA11883-8 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.40
- Change Reason
- Term was erroneous. Updated Component part to describe mutation at coding level and harmonize with HGVS nomenclature guidelines.
- Order vs. Observation
- Both
Language Variants Get Info
- zh-CNChinese (China)
- GBA 基因.c.1448T>G 与 1448T>C:
任意型: 时间点: 全血/组织: 序数型: 分子遗传学类实验室方法 - nl-NLDutch (Netherlands)
- GBA-gen.c.1448T>G & 1448T>C:
aanwezigheid: moment: bloed of weefsel: ordinaal: moleculair genetisch onderzoek - fr-FRFrench (France)
- GBA gène mutations c.1448T>G et 1448T>C:
Arbitraire: Ponctuel: Sang/Tissu: Qualitatif: Biologie moléculaire - it-ITItalian (Italy)
- GBA, gene.c.1448T>G & 1448T>C:
Arb: Pt: Sangue/Tess: Ord: Molgen - ko-KRKorean (Korea, Republic of)
- GBA유전자.g.T1448G+GBA gene.g.T1448C:
임의적분: 검사시점: 전혈/조직: 순위척도: 분자유전 - pt-BRPortuguese (Brazil)
- GBA gene.g.T1448G+GBA gene.g.T1448C:
Arb: Pt: Sg/Tecido: Ord: Genética molecular - ru-RURussian (Russian Federation)
- GBA ген.c.1448T>G & 1448T>C:
Произв: ТчкВрм: Кр/Тк: Пор: МолГен - es-ARSpanish (Argentina)
- xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:
arbitrario: punto en el tiempo: tejido, no especificado: ordinal: genética molecular - es-MXSpanish (Mexico)
- GBA gene.c.1448T> G y 1448T> C:
Arbitrario: Punto temporal: Sangre o tejido: Ordinal: Genética molecular - es-ESSpanish (Spain)
- Gen GBA c.1448T>G y 1448T>C:
Arbitrario: Punto temporal: Sangre o tejido: Ord: Genética molecular - tr-TRTurkish (Turkey)
- GBA geni.c.1448T>G ve 1448T>C:
Sç: Zmlı: Kan/Dk: Srl: Molgen
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35688-1
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