NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087087.8
Allele description [Variation Report for NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)]
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
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: Aug 4, 2024