Annotation Detail
Information
- Associated Genes
- DSP
- Associated Variants
-
DSP p.Tyr494Phe (p.Y494F)
(
ENST00000379802.8,
ENST00000418664.3,
ENST00000710359.2,
ENST00000713904.1,
ENST00000713909.1 )
DSP p.Tyr494Phe (p.Y494F) ( ENST00000379802.8, ENST00000418664.3, ENST00000710359.2, ENST00000713904.1, ENST00000713909.1 ) - Associated Disease
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 8 Woolly hair-skin fragility syndrome Lethal acantholytic epidermolysis bullosa keratosis palmoplantaris striata 2
- Source Database
- ClinVar
- Description
- NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions
- ClinVar Allele ID
- 54027
- ClinVar RefSeq Alternation Syntax
- NM_001319034.2:c.1481A>T
- ClinVar RefSeq Alternation Syntax
- NM_004415.4:c.1481A>T
- ClinVar RefSeq Alternation Syntax
- NM_001008844.3:c.1481A>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-08-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490515
- ClinVar Disease
- Keratosis palmoplantaris striata 2
- ClinVar Disease
- Woolly hair-skin fragility syndrome
- ClinVar Disease
- Lethal acantholytic epidermolysis bullosa
- ClinVar Disease
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- ClinVar Disease
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
- ClinVar Disease
- Arrhythmogenic right ventricular dysplasia 8
- Observed Origin Sample
- unknown
Drugs