Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Arg245Gly (p.R245G)
(
ENST00000328159.9,
ENST00000271850.11,
ENST00000330188.13,
ENST00000323144.12,
ENST00000368530.7,
ENST00000368531.6,
ENST00000368533.8,
ENST00000302206.9,
ENST00000611659.5,
ENST00000651641.1 )
TPM3 p.Glu241Lys (p.E241K) ( ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000271850.11, ENST00000368530.7, ENST00000651641.1, ENST00000611659.5, ENST00000368533.8, ENST00000302206.9, ENST00000368531.6 )
TPM3 p.Lys169Glu (p.K169E) ( ENST00000368533.8, ENST00000302206.9, ENST00000368531.6, ENST00000651641.1, ENST00000611659.5, ENST00000330188.13, ENST00000328159.9, ENST00000271850.11, ENST00000368530.7, ENST00000323144.12 )
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.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.Leu100Met (p.L100M) ( ENST00000651641.1, ENST00000611659.5, ENST00000368533.8, ENST00000368531.6, ENST00000302206.9, ENST00000323144.12, ENST00000330188.13, ENST00000328159.9, ENST00000271850.11, ENST00000368530.7 )
TPM3 p.Arg91Pro (p.R91P) ( ENST00000611659.5, ENST00000651641.1, ENST00000368531.6, ENST00000302206.9, ENST00000368533.8, ENST00000323144.12, ENST00000368530.7, ENST00000271850.11, ENST00000328159.9, ENST00000330188.13 )
TPM3 p.Ala4Val (p.A4V) ( ENST00000651641.1, ENST00000368530.7, ENST00000271850.11 )
TPM3 p.Arg245Gly (p.R245G) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Glu241Lys (p.E241K) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Lys169Glu (p.K169E) ( 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.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 )
TPM3 p.Leu100Met (p.L100M) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Arg91Pro (p.R91P) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 )
TPM3 p.Ala4Val (p.A4V) ( ENST00000271850.11, ENST00000368530.7, ENST00000651641.1 ) - Associated Disease
- Congenital Fiber Type Disproportion
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361085767488321
- Year of publication
- NA
Drugs