Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Ter286AsnfsTer74 (p.*286Nfs*74)
(
ENST00000611659.5,
ENST00000651641.1,
ENST00000368531.6,
ENST00000302206.9,
ENST00000368533.8,
ENST00000323144.12,
ENST00000368530.7,
ENST00000271850.11,
ENST00000328159.9,
ENST00000330188.13 )
TPM3 p.Ter286AsnfsTer74 (p.*286Nfs*74) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Ter286Serext*? (p.*286Sext*?) ( ENST00000368531.6, ENST00000302206.9, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1, ENST00000271850.11, ENST00000368530.7, ENST00000330188.13, ENST00000328159.9, ENST00000323144.12 )
TPM3 c.855-1G>T ( ENST00000330188.13, ENST00000328159.9, ENST00000271850.11, ENST00000368530.7, ENST00000323144.12, ENST00000368533.8, ENST00000302206.9, ENST00000368531.6, ENST00000651641.1, ENST00000611659.5 )
TPM3 c.855-1G>C ( ENST00000323144.12, ENST00000330188.13, ENST00000328159.9, ENST00000271850.11, ENST00000368530.7, ENST00000651641.1, ENST00000611659.5, ENST00000368533.8, ENST00000302206.9, ENST00000368531.6 )
TPM3 c.855-1G>A ( ENST00000651641.1, ENST00000611659.5, ENST00000368533.8, ENST00000302206.9, ENST00000368531.6, ENST00000323144.12, ENST00000330188.13, ENST00000328159.9, ENST00000368530.7, ENST00000271850.11 )
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.Gln32Ter (p.Q32*) ( ENST00000651641.1, ENST00000368530.7, ENST00000271850.11 )
TPM3 p.Met9Arg (p.M9R) ( ENST00000651641.1, ENST00000368530.7, ENST00000271850.11 )
TPM3 p.Ter286Serext*? (p.*286Sext*?) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 c.855-1G>T ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 c.855-1G>C ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 c.855-1G>A ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, 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 )
TPM3 p.Gln32Ter (p.Q32*) ( ENST00000271850.11, ENST00000368530.7, ENST00000651641.1 )
TPM3 p.Met9Arg (p.M9R) ( ENST00000271850.11, ENST00000368530.7, ENST00000651641.1 ) - Associated Disease
- nemaline myopathy 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs