NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) AND Peripheral neuropathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001836840.9
Allele description [Variation Report for NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)]
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)
Condition(s)
- Name:
- Peripheral neuropathy
- Identifiers:
- MONDO: MONDO:0005244; MedGen: C0031117; Human Phenotype Ontology: HP:0009830
Assertion and evidence details
Last Updated: Oct 26, 2024