40930-0LOINC 2.82
PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method
PYGM p.R50X+G205S Bld/T Ql
Component
- PYGM gene.p.Arg50Ter+Gly205Ser
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Arb
Scale
- Ord
Method
- Molgen
Related names
- Arbitrary; Blood; G204S; Genetics; Glycogen phosphorylase, muscle form; Glycogen storage disease type V; Heredity; Heritable; Inherited; McArdle syndrome; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Myophosphorylase gene; Ordinal; P prime; PCR; phosphorylase, glycogen, muscle; Point in time; PYGM p.R50X+G205S; Ql; Qual; Qualitative; R49X; Random; rs116987552; rs119103251; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Arbitrary
- Blood
- G204S
- Genetics
- Glycogen phosphorylase, muscle form
- Glycogen storage disease type V
- Heredity
- Heritable
- Inherited
- McArdle syndrome
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Myophosphorylase gene
- Ordinal
- P prime
- PCR
- phosphorylase, glycogen, muscle
- Point in time
- PYGM gene.p.Arg50Ter+Gly205Ser
- PYGM p.R50X+G205S
- Ql
- Qual
- Qualitative
- R49X
- Random
- rs116987552
- rs119103251
- Screen
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue