100024-9SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive
Part Description
LP265716-3 SETBP1 gene
The SETBP1 gene (SET binding protein 1) [HGNC Gene ID:15573] is located on chromosome 18q12.3. This gene encodes a protein which contains several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] [NCBI Gene ID:26040]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SETBP1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- SETBP1 gene Mut Anl Bld/T
- Display Name
- SETBP1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha
- SETBP1 gene variant analysis, 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 2.72
- Last Updated
- Version 2.72
- Order vs. Observation
- Both
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100024-9
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