NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Jun 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505533.4
Allele description [Variation Report for NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)]
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
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
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|7020106|dbj|BAA90996.1|Protein
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Last Updated: Mar 10, 2024