Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ser685LysfsTer61 (p.S685Kfs*61)
(
ENST00000299314.12 )
GNPTAB p.Ser685LysfsTer61 (p.S685Kfs*61) ( ENST00000299314.12 )
GNPTAB c.3435-1G>A ( ENST00000299314.12 )
GNPTAB c.3335+6T>G ( ENST00000299314.12 )
GNPTAB p.Gln278Ter (p.Q278*) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp190Val (p.D190V) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp190Gly (p.D190G) ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000549940.5, ENST00000299314.12, ENST00000392919.4, ENST00000549165.1 )
GNPTAB c.3435-1G>A ( ENST00000299314.12 )
GNPTAB c.3335+6T>G ( ENST00000299314.12 )
GNPTAB p.Gln278Ter (p.Q278*) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp190Val (p.D190V) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Asp190Gly (p.D190G) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- mucopolysaccharidosis type IIIA
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs