77749-0

LOINC 2.82

CLRN1 gene c.144T>G [Presence] in Blood or Tissue by Molecular genetics method

CLRN1 c.144T>G Bld/T Ql

Definition

  • The presence of the CLRN1 gene mutation c.144T>G (p.N48K, NM_174878.2) is associated with Usher syndrome type III. Among Ashkenazi Jewish individuals, the carrier frequency is 1/120 (0.8%) and detection rate is about 98%. If negative, the patient's carrier risk is reduced from 1/120 to less than 1/5951 (0.02%).[PMID: 14569126]

Component

  • CLRN1 gene.c.144T>G

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; clarin 1; CLRN1 c.144T>G; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; RP61; Screen; Tissue; Tissue, unspecified; USH3; USH3A; Usher syndrome; Usher syndrome type IIIa; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • clarin 1
  • CLRN1 c.144T&gt
  • CLRN1 gene.c.144T>G
  • G
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • RP61
  • Screen
  • Tissue
  • Tissue, unspecified
  • USH3
  • USH3A
  • Usher syndrome
  • Usher syndrome type IIIa
  • WB
  • Whole blood
  • Whole blood or Tissue