NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) AND Autosomal recessive nonsyndromic hearing loss 4
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001822853.3
Allele description [Variation Report for NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)]
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
- Synonyms:
- NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791
Assertion and evidence details
Last Updated: Sep 29, 2024