77749-0
LaboratoryCLRN1 gene c.144T>G [Presence] in Blood or Tissue by Molecular genetics method
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]
LOINC 6-Axis Classification
Component
CLRN1 gene.c.144T>G
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
CLRN1 c.144T>G Bld/T Ql
Display Name
CLRN1 gene c.144T>G Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 77749-0?
LOINC code 77749-0 identifies "CLRN1 gene c.144T>G [Presence] in Blood or Tissue by Molecular genetics method". 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]
What does 77749-0 measure?
This code measures CLRN1 gene.c.144T>G in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.