Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Gly123Arg (p.G123R)
(
ENST00000399402.7,
ENST00000307377.12,
ENST00000307363.10 )
GLB1 p.Gly123Arg (p.G123R) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Gangliosidosis, Generalized GM1, Type 1 (disorder)
- Source Database
- DisGeNET
- Description
- The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which was reported in a patient with infantile GM1 gangliosidosis with the near-complete absence of enzyme activity, and c.367G>A (p.G123R), which is a novel frame-shift mutation.
- Pubmed
- 22371915
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.361900093104562
- Year of publication
- 2012
Drugs