NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Hearing loss
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 31, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678884.9
Allele description [Variation Report for NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)]
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
Condition(s)
- Name:
- Hearing loss
- Identifiers:
- MedGen: C3887873
-
cytochrome c oxidase subunit I (mitochondrion) [Caenorhabditis elegans]
cytochrome c oxidase subunit I (mitochondrion) [Caenorhabditis elegans]gi|5834891|gnl|NCBI_MITO|COX1_10021 NP_006961.1|COX1_10021Protein
-
TMEM165 [Pantherophis guttatus]
TMEM165 [Pantherophis guttatus]Gene ID:117662097Gene
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Last Updated: Jun 29, 2024