Version 2.80

Term Description

The presence of the PCDH15 gene mutation c.733C>T (NM_033056.3) is associated with Usher syndrome type 1F. Among Ashkenazi Jewish individuals, the carrier frequency is 1/147 (0.7%) and detection rate is greater than or equal to 75%. If negative, the patient's carrier risk is reduced from 1/147 to less than 1/585 (0.2%). PMID: 20672374

Fully-Specified Name

Component
PCDH15 gene.c.733C>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
PCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method
Short Name
PCDH15 c.733C>T Bld/T Ql
Display Name
PCDH15 gene c.733C>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PCDH15 gene c.733C>T, Blood or tissue specimen

Example Answer List: LL951-5

Source: Laboratory Corporation of America
Answer Code Score Answer ID
C/C (wild type) LA13521-2
C/T (heterozygous) LA13522-0
T/T (homozygous) LA13523-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.56 (MIN)
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PCDH15 .c.733C>T:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: C PrThr Γονίδιο Γονίδιο PCDH15 Γονίδιο PCDH15 .c.733C>T
es-ES Spanish (Spain) Gen PCDH15 c.733C>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen PCDH15 c. 733C> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) PCDH15 gène mutation c.733C>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) PCDH15, gene.c.733C>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene PCDH15 Gene PCDH15 c.733C>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PCDH15-gen c.733C>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PCDH15 gen PCDH15 gen c.733C>T
tr-TR Turkish (Turkey) PCDH15 geni.c.733C>T:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) PCDH15 基因.c.733C>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 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 原钙粘蛋白-相关 15;原钙粘附蛋白-相关 15;Protocadherin-Related 15 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77748-2