LP19708-4
FGFR3 gene.p.Gly380Arg
Active
Description
The Gly380Arg mutation in the FGFR3 (fibroblast growth factor receptor 3) gene [HGNC Gene ID:3690] causes achondroplasia, the most common short-limbed skeletal dysplasia inherited in an autosomal dominant pattern. More than 90% of patients with achondroplasia have this mutation. Most cases (>80%) occur sporadically. In the other cases, patients inherited one or two copies from an affected parent. Individuals who inherit two copies of the mutation typically have a severe form of achondroplasia and usually are stillborn or die shortly after birth from respiratory failure.[MedlinePlus Condition: achondroplasia] Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- FGFR3 gene p.Gly380Arg
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- FGFR3 p.G380R
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FGFR3 基因.p.G380R Synonyms: FGFR3 p.G380R |
| et-EE | Estonian (Estonia) | FGFR3 geen.p.G380R |
| es-ES | Spanish (Spain) | Gen FGFR3 p.G380R |
| it-IT | Italian (Italy) | FGFR3, gene.p.Gly380Arg Synonyms: Gene FGFR3 p.Gly380Arg |
| tr-TR | Turkish (Turkey) | FGFR3 geni.p.G380R |
| ru-RU | Russian (Russian Federation) | FGFR3 ген.p.G380R |
| nl-NL | Dutch (Netherlands) | FGFR3-gen.p.G380R Synonyms: FGFR3 gen.p.G380R |
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