TPRN
Gene name: taperinOMIM ID: 613354
Chromosome location: 9q34.3
Mutations
| Disease/Phenotype | Deafness, autosomal recessive 79 |
|---|---|
| Reference transcript | NM_001128228.2 |
| DNA Change | c.42_52del |
| A.A. Change | p.Gly15AlafsX150 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Li Y, Pohl E, Boulouiz R, Schraders M, N?rnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, N?rnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B.Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 2010 Mar 12;86(3):479-84. |