Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Arg635Ter (p.R635*)
(
ENST00000367030.7,
ENST00000356082.9,
ENST00000391911.5 )
LAMB3 p.Arg635Ter (p.R635*) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- Junctional epidermolysis bullosa gravis of Herlitz
- Source Database
- ClinVar
- Description
- NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND Junctional epidermolysis bullosa gravis of Herlitz
- ClinVar Allele ID
- 29578
- ClinVar RefSeq Alternation Syntax
- NM_000228.3:c.1903C>T
- ClinVar RefSeq Alternation Syntax
- NM_001017402.2:c.1903C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127641.1:c.1903C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015638
- ClinVar Disease
- Junctional epidermolysis bullosa gravis of Herlitz
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
- Pubmed
- 15538630
- Pubmed
- 7698759
- Pubmed
- 9205497
- Pubmed
- 9242513
- Pubmed
- 10577906
Drugs