57311-3

CYP11B1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

Active

Part Description

LP97416-9 CYP11B1 gene
The CYP11B1 gene (cytochrome P450, family 11, subfamily B, polypeptide 1) [HGNC Gene ID:2591] is located on chromosome 8q21. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1584] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: CYP11B1 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: CYP11B1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: CYP11B1 gene Mut Tested Bld/T
Display Name: CYP11B1 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: CYP11B1 gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
CYP11B1 gene mutations tested for
LP228228-5
- Analyte
  CYP11B1 gene mutations tested for
  LP228228-5
  - Component Numerator
    CYP11B1 gene mutations tested for
    LP228228-5
    - Component Numerator Core
      CYP11B1 gene
      LP97416-9
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.29 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen CYP11B1 testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο CYP11B1 εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CYP11B1 εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ES	Spanish (Spain)	Gen CYP11B1 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen CYP11B1 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	CYP11B1 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	CYP11B1, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene CYP11B1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL	Dutch (Netherlands)	CYP11B1-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: CYP11B1 gen molgen
pl-PL	Polish (Poland)	CYP11B1 gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen CYP11B1 wynik kategorialny
pt-BR	Portuguese (Brazil)	CYP11B1 gene teste para mutação:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: CYP11B; Steroid 11-beta-hydroxylase gene; Cytochrome P450, family 11, subfamily B, polypeptide 1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	CYP11B1 ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	CYP11B1 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	CYP11B1 基因已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: cytochrome P450, family 11, subfamily B, polypeptide 1;细胞色素, 家族 11, 亚家族 B, 多肽 1;CYP11B1;CPN1;FHI;P450C11;CYPXIB1;cytochrome P-450c11;cytochrome P450 11B1, mitochondrial;cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1;cytochrome 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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

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