NM_004415.4(DSP):c.3123C>T (p.Leu1041=) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996339.2
Allele description [Variation Report for NM_004415.4(DSP):c.3123C>T (p.Leu1041=)]
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
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
-
Taxonomy Links for Nucleotide (Select 12102388) (1)
Taxonomy
-
PREDICTED: Homo sapiens tripartite motif containing 14 (TRIM14), transcript vari...
PREDICTED: Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant X1, mRNAgi|2462627445|ref|XM_054364289.1|Nucleotide
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Last Updated: Oct 8, 2024