NM_004415.4(DSP):c.7185C>T (p.Gly2395=) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004003946.2
Allele description [Variation Report for NM_004415.4(DSP):c.7185C>T (p.Gly2395=)]
NM_004415.4(DSP):c.7185C>T (p.Gly2395=)
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
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Ascocoryne sp. PJ-2021b voucher PDD:89103 small subunit ribosomal RNA gene, part...
Ascocoryne sp. PJ-2021b voucher PDD:89103 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2075999675|gb|MZ702527.1|Nucleotide
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Last Updated: Sep 29, 2024