Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg62Gly (p.R62G)
(
ENST00000675939.1,
ENST00000675667.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1,
ENST00000361308.9,
ENST00000368299.7,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1 )
LMNA p.Arg62Gly (p.R62G) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Familial partial lipodystrophy, Dunnigan type
- Source Database
- ClinVar
- Description
- NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) AND Familial partial lipodystrophy, Dunnigan type
- ClinVar Allele ID
- 77765
- ClinVar RefSeq Alternation Syntax
- NM_005572.4:c.184C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282625.2:c.184C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282626.2:c.184C>G
- ClinVar RefSeq Alternation Syntax
- NM_170708.4:c.184C>G
- ClinVar RefSeq Alternation Syntax
- NM_170707.4:c.184C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000503031
- ClinVar Disease
- Familial partial lipodystrophy, Dunnigan type
- Observed Origin Sample
- germline
Drugs