Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Glu82Lys (p.E82K)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000675939.1,
ENST00000675667.1,
ENST00000683032.1 )
LMNA p.Glu82Lys (p.E82K) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) AND Charcot-Marie-Tooth disease type 2
- ClinVar Allele ID
- 77779
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.244G>A
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.244G>A
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.244G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000457442
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2
- Observed Origin Sample
- germline
Drugs