Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Leu392ValfsTer64 (p.L392Vfs*64)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Val360TyrfsTer23 (p.V360Yfs*23) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57ThrfsTer14 (p.Y57Tfs*14) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Leu392ValfsTer64 (p.L392Vfs*64) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Val360TyrfsTer23 (p.V360Yfs*23) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57ThrfsTer14 (p.Y57Tfs*14) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg590His (p.R590H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg590Cys (p.R590C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg457Ter (p.R457*) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Ile (p.N437I) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Ser (p.N437S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Thr (p.N437T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala335Val (p.A335V) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr316Cys (p.Y316C) ( ENST00000307377.12, ENST00000399402.7, ENST00000307363.10 )
GLB1 p.Phe308Leu (p.F308L) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala301Thr (p.A301T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr270Cys (p.Y270C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg208Cys (p.R208C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg201His (p.R201H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 c.457+2T>C ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg148Cys (p.R148C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg148Ser (p.R148S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 c.397-1G>A ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Gly123Arg (p.G123R) ( ENST00000399402.7, ENST00000307377.12, ENST00000307363.10 )
GLB1 p.Thr82Met (p.T82M) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg68Gln (p.R68Q) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg59His (p.R59H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57= (p.Y57=) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57Ter (p.Y57*) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg49Cys (p.R49C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
TMPPE c.-400G>C, GLB1 c.75+1G>C ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 )
TMPPE c.-475A>C, GLB1 p.? (p.?) ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 )
GLB1 p.Arg590His (p.R590H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg590Cys (p.R590C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg457Ter (p.R457*) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Ile (p.N437I) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Ser (p.N437S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Asn437Thr (p.N437T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala335Val (p.A335V) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr316Cys (p.Y316C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Phe308Leu (p.F308L) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala301Thr (p.A301T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr270Cys (p.Y270C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg208Cys (p.R208C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg201His (p.R201H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 c.457+2T>C ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg148Cys (p.R148C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg148Ser (p.R148S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 c.397-1G>A ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Gly123Arg (p.G123R) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Thr82Met (p.T82M) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg68Gln (p.R68Q) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg59His (p.R59H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57= (p.Y57=) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr57Ter (p.Y57*) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg49Cys (p.R49C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
TMPPE c.-400G>C, GLB1 c.75+1G>C ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 )
TMPPE c.-475A>C, GLB1 p.? (p.?) ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 )
GLB1 p.Trp527LeufsTer5 (p.W527Lfs*5)
GLB1 p.Asn490GlyfsTer14 (p.N490Gfs*14)
GLB1 p.Pro397ArgfsTer60 (p.P397Rfs*60)
GLB1 p.Trp86LeufsTer5 (p.W86Lfs*5)
TMPPE c.-401_-400insT, GLB1 c.75_75+1insT
TMPPE c.-425_-424insT, GLB1 p.Thr21TyrfsTer13 (p.T21Yfs*13)
GLB1 p.Trp527LeufsTer5 (p.W527Lfs*5)
GLB1 p.Asn490GlyfsTer14 (p.N490Gfs*14)
GLB1 p.Pro397ArgfsTer60 (p.P397Rfs*60)
GLB1 p.Trp86LeufsTer5 (p.W86Lfs*5)
TMPPE c.-401_-400insT, GLB1 c.75_75+1insT
TMPPE c.-425_-424insT, GLB1 p.Thr21TyrfsTer13 (p.T21Yfs*13) - Associated Disease
- Gangliosidosis, Generalized GM1, Type 1 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361900093104562
- Year of publication
- NA
Drugs