Annotation Detail
Information
- Associated Genes
- DSP
- Associated Variants
-
DSP p.Arg1308Gln (p.R1308Q)
(
ENST00000379802.8,
ENST00000418664.3,
ENST00000710359.2,
ENST00000713904.1,
ENST00000713909.1 )
DSP p.Arg1308Gln (p.R1308Q) ( ENST00000379802.8, ENST00000418664.3, ENST00000710359.2, ENST00000713904.1, ENST00000713909.1 ) - Associated Disease
- arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Source Database
- ClinVar
- Description
- NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND multiple conditions
- ClinVar Allele ID
- 173997
- ClinVar RefSeq Alternation Syntax
- NM_004415.4:c.3923G>A
- ClinVar RefSeq Alternation Syntax
- NM_001319034.2:c.3923G>A
- ClinVar RefSeq Alternation Syntax
- NM_001008844.3:c.3582+341G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001085944
- ClinVar Disease
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- ClinVar Disease
- Arrhythmogenic right ventricular dysplasia 8
- Observed Origin Sample
- germline
Drugs