Annotation Detail
Information
- Associated Genes
- LAMA4
- Associated Variants
-
LAMA4 p.Arg1080Ter (p.R1080*)
(
ENST00000230538.12,
ENST00000389463.9,
ENST00000424408.6,
ENST00000522006.5 )
LAMA4 p.Arg1080Ter (p.R1080*) ( ENST00000230538.12, ENST00000389463.9, ENST00000424408.6, ENST00000522006.5 ) - Source Database
- ClinVar
- Description
- NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) AND Cardiovascular phenotype
- ClinVar Allele ID
- 59492
- ClinVar RefSeq Alternation Syntax
- NM_001105206.3:c.3238C>T
- ClinVar RefSeq Alternation Syntax
- NM_001105207.3:c.3217C>T
- ClinVar RefSeq Alternation Syntax
- NM_002290.5:c.3217C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002321538
- Observed Origin Sample
- germline
Drugs