NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) 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:
- RCV000789199.1
Allele description [Variation Report for NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)]
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2022