Annotation Detail
Information
- Associated Genes
- KIF1A
- Associated Variants
-
KIF1A p.Thr99Met (p.T99M)
(
ENST00000498729.9,
ENST00000404283.9,
ENST00000320389.12,
ENST00000431776.7,
ENST00000647572.2,
ENST00000647731.1,
ENST00000647885.1,
ENST00000648047.2,
ENST00000648129.1,
ENST00000648364.1,
ENST00000648680.1,
ENST00000649096.1,
ENST00000649306.1,
ENST00000650053.1,
ENST00000650130.1,
ENST00000674907.2,
ENST00000675126.2,
ENST00000675940.2,
ENST00000715177.1 )
KIF1A p.Thr99Met (p.T99M) ( ENST00000320389.12, ENST00000404283.9, ENST00000431776.7, ENST00000498729.9, ENST00000647572.2, ENST00000647731.1, ENST00000647885.1, ENST00000648047.2, ENST00000648129.1, ENST00000648364.1, ENST00000648680.1, ENST00000649096.1, ENST00000649306.1, ENST00000650053.1, ENST00000650130.1, ENST00000674907.2, ENST00000675126.2, ENST00000675940.2, ENST00000715177.1 ) - Associated Disease
- Muscle Spasticity
- Source Database
- DisGeNET
- Description
- A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity.
- Pubmed
- 25253658
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs