NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr) AND GM1 gangliosidosis
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001175297.1
Allele description [Variation Report for NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)]
NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)
Condition(s)
- Name:
- GM1 gangliosidosis
- Synonyms:
- Beta galactosidase 1 deficiency; GLB 1 deficiency
- Identifiers:
- MONDO: MONDO:0018149; MedGen: C0085131
-
Microbe sample from Acidobacteriota bacterium
Microbe sample from Acidobacteriota bacteriumbiosample
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Homologene neighbors for GEO Profiles (Select 120953596) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 120977561) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 120958219) (20)
GEO Profiles
-
TRPV1 activation effect on epithelial cell line
TRPV1 activation effect on epithelial cell lineAccession: GDS5292GEO DataSets
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022