Annotation Detail
Information
- Associated Genes
- DSP
- Associated Variants
-
DSP p.Asn1865Tyr (p.N1865Y)
(
ENST00000379802.8,
ENST00000418664.3,
ENST00000710359.2,
ENST00000713904.1,
ENST00000713909.1 )
DSP p.Asn1865Tyr (p.N1865Y) ( ENST00000379802.8, ENST00000418664.3, ENST00000710359.2, ENST00000713904.1, ENST00000713909.1 ) - Associated Disease
- arrhythmogenic right ventricular dysplasia 8
- Source Database
- ClinVar
- Description
- NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) AND Arrhythmogenic right ventricular dysplasia 8
- ClinVar Allele ID
- 308746
- ClinVar RefSeq Alternation Syntax
- NM_001319034.2:c.4264A>T
- ClinVar RefSeq Alternation Syntax
- NM_004415.4:c.5593A>T
- ClinVar RefSeq Alternation Syntax
- NM_001008844.3:c.3796A>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000272334
- ClinVar Disease
- Arrhythmogenic right ventricular dysplasia 8
- Observed Origin Sample
- germline
Drugs