Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Arg168Cys (p.R168C)
(
ENST00000368533.8,
ENST00000323144.12,
ENST00000368530.7,
ENST00000368531.6,
ENST00000271850.11,
ENST00000330188.13,
ENST00000328159.9,
ENST00000302206.9,
ENST00000611659.5,
ENST00000651641.1 )
TPM3 p.Arg168Gly (p.R168G) ( ENST00000328159.9, ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000368533.8, ENST00000368530.7, ENST00000368531.6, ENST00000330188.13, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Arg168Cys (p.R168C) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Arg168Gly (p.R168G) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 ) - Associated Disease
- Congenital Fiber Type Disproportion
- Source Database
- DisGeNET
- Description
- Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene.
- Pubmed
- 23924754
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.361085767488321
- Year of publication
- 2013
Drugs