Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 c.629-1G>A
(
ENST00000356082.9,
ENST00000391911.5,
ENST00000367030.7 )
LAMB3 c.629-1G>A ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- Junctional epidermolysis bullosa, non-Herlitz type
- Source Database
- ClinVar
- Description
- NM_000228.3(LAMB3):c.629-1G>A AND Junctional epidermolysis bullosa, non-Herlitz type
- ClinVar Allele ID
- 29592
- ClinVar RefSeq Alternation Syntax
- NM_000228.3:c.629-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001017402.2:c.629-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127641.1:c.629-1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015654
- ClinVar Disease
- Junctional epidermolysis bullosa, non-Herlitz type
- Observed Origin Sample
- somatic
- Pubmed
- 17476356
Drugs