NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) AND Hearing loss, autosomal recessive
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001291471.1
Allele description [Variation Report for NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)]
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
Condition(s)
- Name:
- Hearing loss, autosomal recessive
- Synonyms:
- Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290
-
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Last Updated: Sep 29, 2024