Annotation Detail
Information
- Associated Genes
- LAMA4 LOC126859766
- Associated Variants
-
LAMA4 p.Pro950Leu (p.P950L)
(
ENST00000230538.12,
ENST00000389463.9,
ENST00000424408.6,
ENST00000522006.5 )
LAMA4 p.Pro950Leu (p.P950L) ( ENST00000230538.12, ENST00000389463.9, ENST00000424408.6, ENST00000522006.5 ) - Associated Disease
- dilated cardiomyopathy 1JJ
- Source Database
- ClinVar
- Description
- NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu) AND Dilated cardiomyopathy 1JJ
- ClinVar Allele ID
- 59493
- ClinVar RefSeq Alternation Syntax
- NM_001105207.3:c.2828C>T
- ClinVar RefSeq Alternation Syntax
- NM_001105206.3:c.2849C>T
- ClinVar RefSeq Alternation Syntax
- NM_002290.5:c.2828C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000043519
- ClinVar Disease
- Dilated cardiomyopathy 1JJ
- Observed Origin Sample
- germline
- Pubmed
- 17646580
Drugs