NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004004830.2
Allele description [Variation Report for NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)]
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
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
-
uncharacterized protein Dmel_CG16965 [Drosophila melanogaster]
uncharacterized protein Dmel_CG16965 [Drosophila melanogaster]gi|440213726|gnl|FlyBase|CG16965-PC AF53137.3|Protein
-
KW2_RS02155 [Lactococcus cremoris subsp. cremoris KW2]
KW2_RS02155 [Lactococcus cremoris subsp. cremoris KW2]Gene ID:61108754Gene
-
52300[uid] AND (alive[prop]) (0)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024