21677-0

LOINC 2.82

FGFR3 gene p.Gly375Cys [Presence] in Blood or Tissue by Molecular genetics method

FGFR3 p.G375C Bld/T Ql

Component

  • FGFR3 gene.p.Gly375Cys

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • ACH; Achondroplasia; Blood; CD333; CEK2; FGFR3 p.G375C; fibroblast growth factor receptor 3; Genetics; Gly375Cys; Heredity; Heritable; HSFGFR3EX; Inherited; JTK4; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; P prime; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Thanatophoric dwarfism; Thanatophoric dysplasia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • ACH
  • Achondroplasia
  • Blood
  • CD333
  • CEK2
  • FGFR3 gene.p.Gly375Cys
  • FGFR3 p.G375C
  • fibroblast growth factor receptor 3
  • Genetics
  • Gly375Cys
  • Heredity
  • Heritable
  • HSFGFR3EX
  • Inherited
  • JTK4
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • P prime
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Thanatophoric dwarfism
  • Thanatophoric dysplasia
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue