Annotation Detail
Information
- Associated Genes
- DSP DSP-AS1
- Associated Variants
-
DSP p.Cys3= (p.C3=)
(
ENST00000379802.8,
ENST00000418664.3,
ENST00000683682.2,
ENST00000710359.2,
ENST00000713909.1,
ENST00000713910.1,
ENST00000713918.1 )
DSP p.Cys3= (p.C3=) ( ENST00000379802.8, ENST00000418664.3, ENST00000683682.2, ENST00000710359.2, ENST00000713909.1, ENST00000713910.1, ENST00000713918.1 ) - Associated Disease
- Lethal acantholytic epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Lethal acantholytic epidermolysis bullosa
- ClinVar Allele ID
- 304013
- ClinVar RefSeq Alternation Syntax
- NM_004415.4:c.9C>T
- ClinVar RefSeq Alternation Syntax
- NM_001008844.3:c.9C>T
- ClinVar RefSeq Alternation Syntax
- NM_001319034.2:c.9C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000345539
- ClinVar Disease
- Lethal acantholytic epidermolysis bullosa
- Observed Origin Sample
- germline
Drugs