Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Ser573Leu (p.S573L)
(
ENST00000675939.1,
ENST00000675667.1,
ENST00000473598.6,
ENST00000683032.1,
ENST00000361308.9,
ENST00000368299.7,
ENST00000448611.6,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000676385.2 )
LMNA p.Ser573Leu (p.S573L) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Mandibuloacral dysostosis
- Source Database
- DisGeNET
- Description
- The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations.
- Pubmed
- 16278265
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.485428837441606
- Year of publication
- 2006
Drugs