NM_001540.5(HSPB1):c.531C>T (p.Asn177=) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002171421.5
Allele description [Variation Report for NM_001540.5(HSPB1):c.531C>T (p.Asn177=)]
NM_001540.5(HSPB1):c.531C>T (p.Asn177=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2F (CMT2F)
- Synonyms:
- Charcot-Marie-Tooth disease type 2F; CMT 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011687; MedGen: C1847823; Orphanet: 99940; OMIM: 606595
Assertion and evidence details
Last Updated: Feb 20, 2024