LP435218-5
RTEL1 gene targeted mutation analysis
Active
Description
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] Source: 3M Health Information Systems,
Basic Part Properties
- Part Display Name
- RTEL1 gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-23
- Construct for LOINC Short Name
- RTEL1 Mut Anl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP435218-5
LOINC Copyright
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