NM_194248.3(OTOF):c.1804-2A>G AND Autosomal recessive nonsyndromic hearing loss 9
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001822890.1
Allele description [Variation Report for NM_194248.3(OTOF):c.1804-2A>G]
NM_194248.3(OTOF):c.1804-2A>G
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
-
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Last Updated: Dec 24, 2023