" /> SLC26A5 gene.c.-53-2A G:PrThr:Pt:Bld/Tiss:Ord:Molgen - CISMeF





Preferred Label : SLC26A5 gene.c.-53-2A G:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : SLC26A5 gene c.-53-2A G Molgen Ql (Bld/Tiss);

LOINC long common name : SLC26A5 gene c.-53-2A G [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : SLC26A5 c.-53-2A G Bld/T Ql;

LOINC description : The solute carrier family 26, member 5 (SLC26A5) gene encodes Prestin and contains 21 exons. A single nucleotide change in the second intron, known as IVS2-2A G (NM_198999.1:c.-53-2A G), is associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray testing for this mutation.;

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28/04/2025


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