Version 2.77

Part Description

LP31876-3   NOTCH3 gene
The NOTCH3 gene (notch 3) [HGNC Gene ID:7883] is located on chromosome 19p13.2-p13.1. This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008] [NCBI Gene ID:4854] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
NOTCH3 gene full mutation analysis
Property
Find
Time
Pt
System
XXX
Scale
Doc
Method
Molgen

Additional Names

Short Name
NOTCH3 gene Full Mut Anl Spec
Display Name
NOTCH3 gene full mutation analysis Molgen Doc (Specimen)
Consumer Name Alpha Get Info
NOTCH3 gene variant analysis, Specimen

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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen NOTCH3 Análisis de mutación completa:Hallazgo:Punto temporal:XXX:Doc:Genética molecular
it-IT Italian (Italy) NOTCH3, gene Analisi di mutazione completa:Osservazione:Pt:XXX:Doc:Molgen
Synonyms: Gene NOTCH3 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) NOTCH3-gen volledige mutatie-analyse:bevinding:moment:XXX:document:moleculair genetisch onderzoek
Synonyms: molgen NOTCH3 gen
ru-RU Russian (Russian Federation) NOTCH3 ген полный мутация анализ:Находка:ТчкВрм:XXX:Док:МолГен
Synonyms: Документ полное исследование на мутацию Точка во времени;Момент
tr-TR Turkish (Turkey) NOTCH3 geni tam mutasyon analizi:Bulgu:Zmlı:XXX:Dokm:Molgen
zh-CN Chinese (China) NOTCH3 基因 全面突变分析:发现:时间点:XXX:文档型:分子遗传学类实验室方法
Synonyms: CADASIL;CASIL;Notch 同源基因 3;伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病;伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病;伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) 不明的;其他;将在相应消息内其他部分之中加以详细说明;未作详细说明的;未作说明的;未做说明的标本;未加规定的;未加说明的标本;杂项 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 完整突变分析;综合突变分析 时刻;随机;随意;瞬间 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=103950-2