NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) AND Charcot-Marie-Tooth disease
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000789864.1
Allele description [Variation Report for NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)]
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024