NM_004415.4(DSP):c.3162_3164del (p.Lys1054del) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004012870.2
Allele description [Variation Report for NM_004415.4(DSP):c.3162_3164del (p.Lys1054del)]
NM_004415.4(DSP):c.3162_3164del (p.Lys1054del)
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
-
Prunus virescens (0)
Nucleotide
-
Prunus ericaeflora (23960)
SRA
-
Cratera arucuia voucher F2696 heat shock protein 70 (DOM5) gene, partial cds
Cratera arucuia voucher F2696 heat shock protein 70 (DOM5) gene, partial cdsgi|2672742540|gb|PP294714.1|Nucleotide
-
Trachylepis sparsa voucher CAS 214458 brain-derived neurotrophic factor (BDNF) g...
Trachylepis sparsa voucher CAS 214458 brain-derived neurotrophic factor (BDNF) gene, partial cdsgi|1622463743|gb|MK791807.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024