Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Gly199Ala (p.G199A)
(
ENST00000367030.7,
ENST00000391911.5,
ENST00000356082.9 )
LAMB3 p.Gly199Ala (p.G199A) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- Junctional epidermolysis bullosa gravis of Herlitz
- Source Database
- ClinVar
- Description
- NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) AND Junctional epidermolysis bullosa gravis of Herlitz
- ClinVar Allele ID
- 29589
- ClinVar RefSeq Alternation Syntax
- NM_001017402.2:c.596G>C
- ClinVar RefSeq Alternation Syntax
- NM_000228.3:c.596G>C
- ClinVar RefSeq Alternation Syntax
- NM_001127641.1:c.596G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-06-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000675069
- ClinVar Disease
- Junctional epidermolysis bullosa gravis of Herlitz
- Observed Origin Sample
- unknown
Drugs