NM_004415.4(DSP):c.3131C>T (p.Ala1044Val) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003806739.2
Allele description [Variation Report for NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)]
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
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
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Prunus hypotricha (0)
dbVar
-
Prunus hypotricha AND 1[s_discriminator] (0)
dbGaP
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Prunus dulcis cultivar Nonpareil isolate clone GOH B32 T37-40 chromosome 2, whol...
Prunus dulcis cultivar Nonpareil isolate clone GOH B32 T37-40 chromosome 2, whole genome shotgun sequencegi|2271397655|gb|JAJFAZ020000002.1| WGS:JAJFAZ02|Pdu2Nucleotide
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ApHL3SD-XXXI-H6 ApHL3SD Acyrthosiphon pisum cDNA clone ApHL3SDXXXIH6 5', mRNA se...
ApHL3SD-XXXI-H6 ApHL3SD Acyrthosiphon pisum cDNA clone ApHL3SDXXXIH6 5', mRNA sequencegi|47517382|gnl|dbEST|23082153|gb|C 85.1|Nucleotide
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Last Updated: Sep 29, 2024