Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Glu1248LeufsTer35 (p.E1248Lfs*35)
(
ENST00000299314.12 )
GNPTAB p.Leu1168GlnfsTer5 (p.L1168Qfs*5) ( ENST00000299314.12 )
GNPTAB p.Val1148AlafsTer2 (p.V1148Afs*2) ( ENST00000299314.12 )
GNPTAB p.Lys898SerfsTer13 (p.K898Sfs*13) ( ENST00000299314.12 )
GNPTAB p.Asn859GlnfsTer2 (p.N859Qfs*2) ( ENST00000299314.12 )
GNPTAB p.Val78del (p.V78del) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Glu1248LeufsTer35 (p.E1248Lfs*35) ( ENST00000299314.12 )
GNPTAB p.Leu1168GlnfsTer5 (p.L1168Qfs*5) ( ENST00000299314.12 )
GNPTAB p.Val1148AlafsTer2 (p.V1148Afs*2) ( ENST00000299314.12 )
GNPTAB p.Lys898SerfsTer13 (p.K898Sfs*13) ( ENST00000299314.12 )
GNPTAB p.Asn859GlnfsTer2 (p.N859Qfs*2) ( ENST00000299314.12 )
GNPTAB p.Val78del (p.V78del) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Arg1205Ter (p.R1205*) ( ENST00000299314.12 )
GNPTAB p.Arg1189Ter (p.R1189*) ( ENST00000299314.12 )
GNPTAB p.Asn1153Ser (p.N1153S) ( ENST00000299314.12 )
GNPTAB c.3335+6T>G ( ENST00000299314.12 )
GNPTAB p.His956Arg (p.H956R) ( ENST00000299314.12 )
GNPTAB p.His956Tyr (p.H956Y) ( ENST00000299314.12 )
GNPTAB p.His956Asn (p.H956N) ( ENST00000299314.12 )
GNPTAB p.Gln926Pro (p.Q926P) ( ENST00000299314.12 )
GNPTAB c.2715+2T>G ( ENST00000299314.12 )
GNPTAB c.2715+1G>A ( ENST00000299314.12 )
GNPTAB p.Leu785Trp (p.L785W) ( ENST00000299314.12 )
GNPTAB p.Ala662Gly (p.A662G) ( ENST00000299314.12 )
GNPTAB p.Ala592Thr (p.A592T) ( ENST00000299314.12 )
GNPTAB p.Cys505Tyr (p.C505Y) ( ENST00000299314.12 )
GNPTAB p.Cys442Tyr (p.C442Y) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB c.1285-2A>G ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp407Gly (p.D407G) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp407Ala (p.D407A) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Ile403Thr (p.I403T) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Ser399Phe (p.S399F) ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Phe374Leu (p.F374L) ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Arg334Leu (p.R334L) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Arg334Gln (p.R334Q) ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Arg334Ter (p.R334*) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Leu257= (p.L257=) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB c.571+3A>G ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB c.571+3A>C ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Trp81Leu (p.W81L) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Tyr56Ter (p.Y56*) ( ENST00000549165.1, ENST00000392919.4, ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Ser15Tyr (p.S15Y) ( ENST00000549165.1, ENST00000392919.4, ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000549940.5, ENST00000299314.12, ENST00000392919.4, ENST00000549165.1 )
GNPTAB p.Arg1205Ter (p.R1205*) ( ENST00000299314.12 )
GNPTAB p.Arg1189Ter (p.R1189*) ( ENST00000299314.12 )
GNPTAB p.Asn1153Ser (p.N1153S) ( ENST00000299314.12 )
GNPTAB c.3335+6T>G ( ENST00000299314.12 )
GNPTAB p.His956Arg (p.H956R) ( ENST00000299314.12 )
GNPTAB p.His956Tyr (p.H956Y) ( ENST00000299314.12 )
GNPTAB p.His956Asn (p.H956N) ( ENST00000299314.12 )
GNPTAB p.Gln926Pro (p.Q926P) ( ENST00000299314.12 )
GNPTAB c.2715+2T>G ( ENST00000299314.12 )
GNPTAB c.2715+1G>A ( ENST00000299314.12 )
GNPTAB p.Leu785Trp (p.L785W) ( ENST00000299314.12 )
GNPTAB p.Ala662Gly (p.A662G) ( ENST00000299314.12 )
GNPTAB p.Ala592Thr (p.A592T) ( ENST00000299314.12 )
GNPTAB p.Cys505Tyr (p.C505Y) ( ENST00000299314.12 )
GNPTAB p.Cys442Tyr (p.C442Y) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB c.1285-2A>G ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp407Gly (p.D407G) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp407Ala (p.D407A) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Ile403Thr (p.I403T) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Ser399Phe (p.S399F) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Phe374Leu (p.F374L) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Arg334Leu (p.R334L) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Arg334Gln (p.R334Q) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Arg334Ter (p.R334*) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Leu257= (p.L257=) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB c.571+3A>G ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB c.571+3A>C ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Trp81Leu (p.W81L) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Tyr56Ter (p.Y56*) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 )
GNPTAB p.Ser15Tyr (p.S15Y) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 )
GNPTAB p.Trp463MetfsTer44 (p.W463Mfs*44)
GNPTAB p.Asn175LysfsTer12 (p.N175Kfs*12)
GNPTAB p.Trp463MetfsTer44 (p.W463Mfs*44)
GNPTAB p.Asn175LysfsTer12 (p.N175Kfs*12) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs