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
-
Homo sapiens APC, WNT signaling pathway regulator (APC), transcript variant 3, m...
Homo sapiens APC, WNT signaling pathway regulator (APC), transcript variant 3, mRNAgi|307133686|ref|NM_000038.5|Nucleotide
-
Chain H, CarB
Chain H, CarBgi|75766087|pdb|2A7K|HProtein
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Last Updated: Aug 25, 2024