NM_000166.6(GJB1):c.454del (p.Val152fs) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856241.4
Allele description [Variation Report for NM_000166.6(GJB1):c.454del (p.Val152fs)]
NM_000166.6(GJB1):c.454del (p.Val152fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
Assertion and evidence details
Last Updated: Sep 29, 2024