NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001247366.7
Allele description [Variation Report for NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)]
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
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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Homo sapiens CCAAT enhancer binding protein beta (CEBPB), transcript variant 1, ...
Homo sapiens CCAAT enhancer binding protein beta (CEBPB), transcript variant 1, mRNAgi|551895084|ref|NM_001285878.1|Nucleotide
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Homo sapiens dynein axonemal assembly factor 19 (DNAAF19), transcript variant 2,...
Homo sapiens dynein axonemal assembly factor 19 (DNAAF19), transcript variant 2, mRNAgi|1676439638|ref|NM_001258395.2|Nucleotide
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Salmonella enterica subsp. enterica serovar Typhimurium str. DT104 strain CH11 i...
Salmonella enterica subsp. enterica serovar Typhimurium str. DT104 strain CH11 isolate CH11, whole genome shotgun sequencegi|950831213|ref|NZ_CFOA01000015.1|Nucleotide
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Salmonella enterica subsp. enterica serovar Typhimurium str. DT104 strain CH24 i...
Salmonella enterica subsp. enterica serovar Typhimurium str. DT104 strain CH24 isolate CH24, whole genome shotgun sequencegi|950830830|ref|NZ_CGDA01000011.1|Nucleotide
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Last Updated: Sep 29, 2024