40876-5

LOINC 2.82

AMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics method

AMPD1 p.Q12X+P48L Bld/T Ql

Component

  • AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Arb

Scale

  • Ord

Method

  • Molgen

Related names

  • adenosine monophosphate deaminase 1; adenosine monophosphate deaminase 1 (isoform M) gene; Adenosine monophosphate deaminase-1 (muscle) gene; AMPD1 p.Q12X+P48L; Arbitrary; Blood; Genetics; Heredity; Heritable; Inherited; MAD; MADA; MMDD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Myoadenylate deaminase gene; Ordinal; P prime; PCR; Point in time; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • adenosine monophosphate deaminase 1
  • adenosine monophosphate deaminase 1 (isoform M) gene
  • Adenosine monophosphate deaminase-1 (muscle) gene
  • AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
  • AMPD1 p.Q12X+P48L
  • Arbitrary
  • Blood
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • MAD
  • MADA
  • MMDD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Myoadenylate deaminase gene
  • Ordinal
  • P prime
  • PCR
  • Point in time
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue