21675-4
FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19704-3 FGFR2 gene
The FGFR2 gene (fibroblast growth factor receptor 2) [HGNC Gene ID:3689] is located on chromosome 10q26. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] [NCBI Gene ID:2263]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FGFR2 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- FGFR2 gene Mut Tested Bld/T
- Display Name
- FGFR2 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FGFR2 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | determinación de mutaciones del gen FGFR2: |
es-ES | Spanish (Spain) | Gen FGFR2 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen FGFR2 analizadas para: |
fr-FR | French (France) | FGFR2 gène mutations recherchées: |
it-IT | Italian (Italy) | FGFR2, gene, mutazioni testate per: Synonyms: Gene FGFR2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | FGFR2 유전자 돌연변이 검사용: |
nl-NL | Dutch (Netherlands) | FGFR2-gen geteste mutaties: Synonyms: FGFR2 gen molgen |
pt-BR | Portuguese (Brazil) | FGFR2 teste para mutação do gene: Synonyms: Bacteria expressed kinase; |
ru-RU | Russian (Russian Federation) | FGFR2 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | FGFR2 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | FGFR2 基因 已测试的突变: Synonyms: BEK; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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