RGD Reference Report - Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. - Rat Genome Database

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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Authors: Migliosi, V  Modamio-Hoybjor, S  Moreno-Pelayo, MA  Rodriguez-Ballesteros, M  Villamar, M  Telleria, D  Menendez, I  Moreno, F  Del Castillo, I 
Citation: Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6.
RGD ID: 9479156
Pubmed: PMID:12114484   (View Abstract at PubMed)
PMCID: PMC1735186   (View Article at PubMed Central)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal recessive nonsyndromic deafness 9  IAGP 9479156DNA:nonsense mutation:cds:p.Q829X (human)RGD 
autosomal recessive nonsyndromic deafness 9  ISOOTOF (Homo sapiens)9479156; 9479156DNA:nonsense mutation:cds:p.Q829X (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Prelingual sensorineural hearing impairment  IAGP 9479156DNA:nonsense mutation:cds:p.Q829XRGD 
Objects Annotated

Genes (Rattus norvegicus)
Otof  (otoferlin)

Genes (Mus musculus)
Otof  (otoferlin)

Genes (Homo sapiens)
OTOF  (otoferlin)


Additional Information