NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996655.2
Allele description [Variation Report for NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)]
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
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
-
TMEM41B transmembrane protein 41B [Homo sapiens]
TMEM41B transmembrane protein 41B [Homo sapiens]Gene ID:440026Gene
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Gene Links for GEO Profiles (Select 55742228) (1)
Gene
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Chromosome neighbors for GEO Profiles (Select 55758624) (19)
GEO Profiles
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Gene Links for GEO Profiles (Select 48678862) (0)
Gene
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Last Updated: Sep 29, 2024