Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Pro480ArgfsTer54 (p.P480Rfs*54)
(
ENST00000391911.5,
ENST00000356082.9,
ENST00000367030.7 )
LAMB3 p.Pro480ArgfsTer54 (p.P480Rfs*54) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- junctional epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) AND Junctional epidermolysis bullosa
- ClinVar Allele ID
- 29586
- ClinVar RefSeq Alternation Syntax
- NM_001017402.2:c.1439_1443del
- ClinVar RefSeq Alternation Syntax
- NM_000228.3:c.1439_1443del
- ClinVar RefSeq Alternation Syntax
- NM_001127641.1:c.1439_1443del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002228028
- ClinVar Disease
- Junctional epidermolysis bullosa
- Observed Origin Sample
- germline
Drugs