NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) AND Autosomal recessive nonsyndromic hearing loss 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001136996.4
Allele description [Variation Report for NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys)]
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 9
- Synonyms:
- NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; Deafness, autosomal recessive 9; AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010986; MedGen: C1832828; Orphanet: 90636; OMIM: 601071
-
Mus musculus DNA segment, Chr 2, ERATO Doi 750, expressed (D2Ertd750e), mRNA
Mus musculus DNA segment, Chr 2, ERATO Doi 750, expressed (D2Ertd750e), mRNAgi|141801803|ref|NM_026412.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023