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.Leu392ValfsTer64 (p.L392Vfs*64) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Val360TyrfsTer23 (p.V360Yfs*23) ( 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.Trp509Cys (p.W509C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Thr500Ala (p.T500A) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482Cys (p.R482C) ( ENST00000307377.12, ENST00000307363.10, ENST00000399402.7 )
GLB1 p.Gly438Glu (p.G438E) ( 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.Pro429Ser (p.P429S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Gln408Pro (p.Q408P) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Pro366His (p.P366H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala335Val (p.A335V) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala301Thr (p.A301T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Trp273Leu (p.W273L) ( 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.Tyr83Asp (p.Y83D) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr83His (p.Y83H) ( 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 )
TMPPE c.-400G>C, GLB1 c.75+1G>C ( 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.Trp509Cys (p.W509C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Thr500Ala (p.T500A) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482Cys (p.R482C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Gly438Glu (p.G438E) ( 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.Pro429Ser (p.P429S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Gln408Pro (p.Q408P) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Pro366His (p.P366H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala335Val (p.A335V) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Ala301Thr (p.A301T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Trp273Leu (p.W273L) ( 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.Tyr83Asp (p.Y83D) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Tyr83His (p.Y83H) ( 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 )
TMPPE c.-400G>C, GLB1 c.75+1G>C ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 )
GLB1 p.Asn490GlyfsTer14 (p.N490Gfs*14)
TMPPE c.-425_-424insT, GLB1 p.Thr21TyrfsTer13 (p.T21Yfs*13)
GLB1 p.Asn490GlyfsTer14 (p.N490Gfs*14)
TMPPE c.-425_-424insT, GLB1 p.Thr21TyrfsTer13 (p.T21Yfs*13) - Associated Disease
- mucopolysaccharidosis type IVB
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.367057488674088
- Year of publication
- NA
Drugs