Annotation Detail
Information
- Associated Genes
- LMNA LOC129931597
- Associated Variants
-
LMNA p.Gln6Ter (p.Q6*)
(
ENST00000368300.9,
ENST00000682650.1,
ENST00000676385.2,
ENST00000361308.9,
ENST00000368299.7,
ENST00000683032.1,
ENST00000368301.6,
ENST00000677389.1,
ENST00000675667.1,
ENST00000675939.1 )
LMNA p.Gln6Ter (p.Q6*) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- ClinVar Allele ID
- 29516
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.16C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.16C>T
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.16C>T
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.16C>T
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.16C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015564
- ClinVar Disease
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Observed Origin Sample
- germline
- Pubmed
- 10080180
Drugs