Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg527His (p.R527H)
(
ENST00000675667.1,
ENST00000675939.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1,
ENST00000473598.6,
ENST00000368297.5,
ENST00000368299.7,
ENST00000361308.9,
ENST00000448611.6,
ENST00000676385.2,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1 )
LMNA p.Arg527Pro (p.R527P) ( ENST00000504687.7, ENST00000368299.7, ENST00000448611.6, ENST00000368297.5, ENST00000368301.6, ENST00000368300.9, ENST00000361308.9, ENST00000473598.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg527His (p.R527H) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg527Pro (p.R527P) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Acquired partial lipodystrophy
- Source Database
- DisGeNET
- Description
- A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been reported in patients with MAD and partial lipodystrophy.
- Pubmed
- 12913070
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2003
Drugs