NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- May 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020575.6
Allele description [Variation Report for NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)]
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
- Synonyms:
- Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290
Assertion and evidence details
Last Updated: Oct 26, 2024