82137-1

FGFR3 gene p.Gly380Arg targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method

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Part Description

LP19708-4 FGFR3 gene.p.Gly380Arg
The Gly380Arg mutation in the FGFR3 (fibroblast growth factor receptor 3) gene [HGNC Gene ID:3690] causes achondroplasia, the most common short-limbed skeletal dysplasia inherited in an autosomal dominant pattern. More than 90% of patients with achondroplasia have this mutation. Most cases (>80%) occur sporadically. In the other cases, patients inherited one or two copies from an affected parent. Individuals who inherit two copies of the mutation typically have a severe form of achondroplasia and usually are stillborn or die shortly after birth from respiratory failure.[MedlinePlus Condition: achondroplasia] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: FGFR3 gene.p.Gly380Arg targeted mutation analysis:Find:Pt:Amnio fld/CVS:Doc:Molgen
Long Common Name: FGFR3 gene p.Gly380Arg targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Short Name: FGFR3 p.G380R Mut Anl Amn/CVS
Display Name: FGFR3 gene p.Gly380Arg targeted mutation analysis Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info: FGFR3 gene p.Gly380Arg targeted mutation analysis, Amnio Fld/CVS

Part Model Get Info

Component
FGFR3 gene.p.Gly380Arg targeted mutation analysis
LP228433-1
- Analyte
  FGFR3 gene.p.Gly380Arg targeted mutation analysis
  LP228433-1
  - Component Numerator
    FGFR3 gene.p.Gly380Arg targeted mutation analysis
    LP228433-1
    - Component Numerator Core
      FGFR3 gene.p.Gly380Arg
      LP19708-4
    - Component Numerator Core Suffix
      targeted mutation analysis
      LP32419-1
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Amnio fld/CVS
LP185743-4
- System Core
  Amnio fld/CVS
  LP185743-4
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Associated Observations

81247-9 Master HL7 genetic variant reporting panel

LOINC	Name	R/O/C	Cardinality	Example UCUM Units
81247-9	Master HL7 genetic variant reporting panel
Indent81306-3	Variables that apply to the overall study
IndentIndent53577-3	Reason for study	O	0..*
IndentIndent51967-8	Genetic disease assessed [ID]	O	0..*
IndentIndent51963-7	Medication assessed [ID]	C	0..*
IndentIndent48018-6	Gene studied [ID]	C	0..*
IndentIndent36908-2	Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal	C	0..*
IndentIndent51959-5	Range(s) of DNA sequence examined	C	0..*
IndentIndent81293-3	Description of ranges of DNA sequences examined	C	0..1
IndentIndent51968-6	Discrete variation analysis overall interpretation	R	1..1
IndentIndent83006-7	Deletion-duplication overall interpretation	C
IndentIndent51969-4	Genetic analysis report	O	0..1
IndentIndent81291-7	Variant ISCN	C
IndentIndent62374-4	Human reference sequence assembly version	C	0..1
IndentIndent81303-0	HGVS version [ID]	O	0..1
IndentIndent82115-7	dbSNP version [ID]	O	0..1
IndentIndent83007-5	COSMIC version [ID]	O
IndentIndent83008-3	ClinVar version [ID]	O
Indent81250-3	Discrete genetic variant panel		0..n
IndentIndent83005-9	Variant category
IndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndent48019-4	DNA change type	O	0..1
IndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndent81304-8	Variant analysis method [Type]	O
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent69548-6	Genetic variant assessment	O
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53034-5	Allelic state	C	0..1
IndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndent82120-7	Allelic phase	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
Indent81297-4	Structural variant panel
IndentIndent82155-3	Genomic structural variant copy number			{#}
IndentIndent81299-0	Structural variant reported arrCGH [Ratio]	C	0..1	{Ratio}
IndentIndent81300-6	Structural variant [Length]	O	0..1	{#}
IndentIndent81301-4	Structural variant outer start and end	O	0..1	{Range}
IndentIndent81302-2	Structural variant inner start and end	O	0..1	{Range}
Indent81251-1	Complex genetic variant panel		0..n
IndentIndent81260-2	Complex genetic variant [ID]	C	0..1
IndentIndent81262-8	Complex variant HGVS name	C	0..1
IndentIndent81263-6	Complex variant type	C	0..1
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent53034-5	Allelic state	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O
Indent82118-1	Pharmacogenomics result panel
IndentIndent48018-6	Gene studied [ID]		1..*
IndentIndent84413-4	Genotype display name
IndentIndent53040-2	Genetic variation's effect on drug metabolism	C	0..1
IndentIndent51961-1	Genetic variation's effect on drug efficacy	C	0..1
IndentIndent83009-1	Genetic variation's effect on high-risk allele
IndentIndent82117-3	Medication usage implications panel	O	0..*
IndentIndentIndent51963-7	Medication assessed [ID]	R	1..*
IndentIndentIndent82116-5	Medication usage suggestion [Type]	C	1..1
IndentIndentIndent83010-9	Medication usage suggestion [Narrative]	C
Indent83011-7	Haplotype definition panel
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O

Example Answer List: LL3950-4

Source: Regenstrief LOINC

Answer	Code	Score	Answer ID
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value)			LA9633-4
AbsentCopyright http://snomed.info/sct ID:2667000 Absent (qualifier value)			LA9634-2

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.65 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen FGFR3.p.Gly380Arg cílená mutační analýza:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο FGFR3 p.Gly380Arg στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.MUT P Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Βιοψία χοριακής λάχνης Γονίδιο Γονίδιο FGFR3 Γονίδιο FGFR3 p.Gly380Arg Εύρεση Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen FGFR3 p.G380R Analisis de mutaciones:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
es-MX	Spanish (Mexico)	FGFR3 gene.p.Gly380Arg análisis de mutación dirigida:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Genética molecular
fr-FR	French (France)	FGFR3 gène p.Gly380Arg mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Biologie moléculaire
it-IT	Italian (Italy)	FGFR3, gene.p.Gly380Arg analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen Synonyms: Campione di villi coriali Gene FGFR3 Gene FGFR3 p.Gly380Arg Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
pl-PL	Polish (Poland)	FGFR3 gen.p.Gly380Arg ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:dokument:genetyka molekularna Synonyms: Analiza mutacji p.Gly380Arg genu FGFR3 diagnostyka molekularna Gen FGFR3 p.Gly380Arg Gen FGFR3;Gen receptora dla czynnika wzrostu fibroblastów 3
tr-TR	Turkish (Turkey)	FGFR3 geni.p.G380R Mutasyon analizi:Bulgu:Zmlı:Amnio sv/CVS:Dokm:Molgen Synonyms: Amniyon mayii
zh-CN	Chinese (China)	FGFR3 基因.p.G380R 突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:分子遗传学类实验室方法 Synonyms: ACH;CEK2;JTK4;先天性软骨发育不全;致死性侏儒;致死性侏儒症;致死性发育不良;致死性发育异常;软骨发育不全;软骨发育不全症;软骨生成不良症 FGFR3 p.G380R P 型临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书分子病理学.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;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;随机;随意;瞬间绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS）羊膜水;胎水遗传基因;遗传因子;吉恩;生物基因

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.