Version 2.78

Fully-Specified Name

Component
PYGM gene.p.Arg50Ter+Gly205Ser
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method
Short Name
PYGM p.R50X+G205S Bld/T Ql
Display Name
PYGM gene p.Arg50Ter+Gly205Ser Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PYGM gene p.Arg50Ter+Gly205Ser, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56
Change Reason
According to OMIM, R49X mutation (rs116987552) is now referred to as the R50X mutation and G204S (rs119103251) is referred to as the G205S mutation. Updated Component part for this term. Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PYGM p.R49X+G204S:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) PYGM gene.p.Arg50Ter + Gly205Ser:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) PYGM gène p.Arg50Ter+Gly205Ser:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) PYGM, gene.p.Arg50Ter+Gly205Ser:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene PYGM Gene PYGM p.Arg50Ter+Gly205Ser Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) PYGM 유전자.p.R49X+G204S:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) PYGM-gen.p.R50X+G205S:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PYGM gen PYGM gen.p.R50X+G205S
pt-BR Portuguese (Brazil) PYGM gene.p.R49X+G204S:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; PYGM p.R49X+G204S; Myophosphorylase gene; Glycogen phosphorylase, muscle form; McArdle syndrome; Glycogen storage disease type V; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) PYGM ген.p.R50X+G205S:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) PYGM geni.p.R50X+G205S:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) PYGM 基因.p.R50X+G205S:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Glycogen-heart syndrome;McArdle 综合征;Pompe 综合征;特发性全身性糖原沉着病;糖原心综合征;糖原磷酸化酶, 肌肉型;糖原积累病 V 型;糖原贮积病 V 型;糖原贮积症 V 型;肌磷酸化酶基因;麦卡德尔综合征 P 型 PYGM p.R50X+G205S 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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