NM_004415.4(DSP):c.7893C>A (p.Ile2631=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002149412.6
Allele description [Variation Report for NM_004415.4(DSP):c.7893C>A (p.Ile2631=)]
NM_004415.4(DSP):c.7893C>A (p.Ile2631=)
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
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
-
MOB1, Mps One Binder kinase activator-like 3 (yeast) [Mus musculus]
MOB1, Mps One Binder kinase activator-like 3 (yeast) [Mus musculus]gi|37194908|gb|AAH58168.1|Protein
-
LOC4344256 [Oryza sativa Japonica Group]
LOC4344256 [Oryza sativa Japonica Group]Gene ID:4344256Gene
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Last Updated: Sep 29, 2024