Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Arg168His (p.R168H)
(
ENST00000330188.13,
ENST00000368530.7,
ENST00000302206.9,
ENST00000328159.9,
ENST00000368533.8,
ENST00000323144.12,
ENST00000271850.11,
ENST00000368531.6,
ENST00000611659.5,
ENST00000651641.1 )
TPM3 p.Arg168His (p.R168H) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 ) - Associated Disease
- Myopathies, Nemaline
- Source Database
- DisGeNET
- Description
- We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members.
- Pubmed
- 18300303
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0156974782755293
- Year of publication
- 2008
Drugs