Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Ala642GlyfsTer65 (p.A642Gfs*65)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Phe435CysfsTer17 (p.F435Cfs*17) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Asp408ValfsTer21 (p.D408Vfs*21) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Ala642GlyfsTer65 (p.A642Gfs*65) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Phe435CysfsTer17 (p.F435Cfs*17) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp408ValfsTer21 (p.D408Vfs*21) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg760Ter (p.R760*) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gln582Ter (p.Q582*) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val518Met (p.V518M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp490Gly (p.D490G) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg396Leu (p.R396L) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg396His (p.R396H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly392Asp (p.G392D) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg389Pro (p.R389P) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg389His (p.R389H) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Val383Met (p.V383M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val379Leu (p.V379L) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Val379Ile (p.V379I) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val359Met (p.V359M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg323Gln (p.R323Q) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg315Leu (p.R315L) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg315His (p.R315H) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg315Cys (p.R315C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Trp (p.R307W) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Gly (p.R307G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asn289Ser (p.N289S) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asn289Thr (p.N289T) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg286Gln (p.R286Q) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Gly278Arg (p.G278R) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Tyr276Asn (p.Y276N) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Gly218Ser (p.G218S) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Ser160Cys (p.S160C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg143His (p.R143H) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg142His (p.R142H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg142Cys (p.R142C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg126Cys (p.R126C) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Asp102Val (p.D102V) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Asp102Gly (p.D102G) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Gly94Asp (p.G94D) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Ser42Cys (p.S42C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Ser42Tyr (p.S42Y) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Arg760Ter (p.R760*) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gln582Ter (p.Q582*) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val518Met (p.V518M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp490Gly (p.D490G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg396Leu (p.R396L) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg396His (p.R396H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly392Asp (p.G392D) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg389Pro (p.R389P) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg389His (p.R389H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val383Met (p.V383M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val379Leu (p.V379L) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val379Ile (p.V379I) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Val359Met (p.V359M) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg323Gln (p.R323Q) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg315Leu (p.R315L) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg315His (p.R315H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg315Cys (p.R315C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Trp (p.R307W) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Gly (p.R307G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asn289Ser (p.N289S) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asn289Thr (p.N289T) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg286Gln (p.R286Q) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly278Arg (p.G278R) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Tyr276Asn (p.Y276N) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly218Ser (p.G218S) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Ser160Cys (p.S160C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg143His (p.R143H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg142His (p.R142H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg142Cys (p.R142C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg126Cys (p.R126C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp102Val (p.D102V) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp102Gly (p.D102G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly94Asp (p.G94D) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Ser42Cys (p.S42C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Ser42Tyr (p.S42Y) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg445LysfsTer9 (p.R445Kfs*9)
TGM1 p.Arg445LysfsTer9 (p.R445Kfs*9) - Associated Disease
- Ichthyosis Congenita II
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs