LP19708-4

FGFR3 gene.p.Gly380Arg

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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 Name

FGFR3 gene.p.Gly380Arg

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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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.