53722-5

LOINC 2.82

SLC26A4 gene p.Glu384Gly [Presence] in Blood by Molecular genetics method

SLC26A4 p.E384G Bld Ql

Component

  • SLC26A4 gene.p.Glu384Gly

Specimen / system

  • Bld

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; Deafness, autosomal recessive 4; DFNB4; EVA; Genetics; Glu384Gly; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; NSRD4; Ordinal; P prime; PCR; PDS; Pendred syndrome; Pendrin (Sodium-independent chloride/iodide transporter); Point in time; PR; QL; Qual; Qualitative; Random; rs111033244; Screen; SLC26A4 p.E384G; solute carrier family 26 (anion exchanger), member 4; Solute carrier family 26, member 4; TDH2B; WB; Whole blood

Index terms

  • Blood
  • Deafness, autosomal recessive 4
  • DFNB4
  • EVA
  • Genetics
  • Glu384Gly
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • NSRD4
  • Ordinal
  • P prime
  • PCR
  • PDS
  • Pendred syndrome
  • Pendrin (Sodium-independent chloride/iodide transporter)
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • rs111033244
  • Screen
  • SLC26A4 gene.p.Glu384Gly
  • SLC26A4 p.E384G
  • solute carrier family 26 (anion exchanger), member 4
  • Solute carrier family 26, member 4
  • TDH2B
  • WB
  • Whole blood