Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg133Gln (p.R133Q)
(
ENST00000675667.1,
ENST00000675939.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000473598.6,
ENST00000683032.1,
ENST00000368297.5,
ENST00000361308.9,
ENST00000368299.7,
ENST00000448611.6,
ENST00000676385.2,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1 )
LMNA p.Arg133Pro (p.R133P) ( ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6 )
LMNA p.Arg133Leu (p.R133L) ( ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000361308.9, ENST00000368299.7, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1 )
LMNA p.Arg133Gln (p.R133Q) ( 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.Arg133Pro (p.R133P) ( 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.Arg133Leu (p.R133L) ( 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
- Dwarfism
- Source Database
- DisGeNET
- Description
- A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes.
- Pubmed
- 16174718
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2005
Drugs