PTPRQ
Gene name: protein tyrosine phosphatase, receptor type, QOMIM ID: 603317
Chromosome location: 12q21.31
Mutations
| Disease/Phenotype | Deafness, autosomal recessive 84 |
|---|---|
| Reference transcript | NM_001145026.1 |
| DNA Change | c.1369A>G |
| A.A. Change | p.Arg457Gly |
| Exon/Intron | exon 19 |
| Mutation Type | substitution |
| Reference | Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H.Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet. 2010 Apr 9;86(4):604-10. |