NM_004415.4(DSP):c.1333A>G (p.Ile445Val) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004009291.2
Allele description [Variation Report for NM_004415.4(DSP):c.1333A>G (p.Ile445Val)]
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
Condition(s)
- Name:
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Synonyms:
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676
Assertion and evidence details
Last Updated: Sep 29, 2024