NM_000152.5(GAA):c.2604G>T (p.Leu868=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002198334.5
Allele description [Variation Report for NM_000152.5(GAA):c.2604G>T (p.Leu868=)]
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
-
ubiquitin carboxyl-terminal hydrolase 44 [Homo sapiens]
ubiquitin carboxyl-terminal hydrolase 44 [Homo sapiens]gi|109134332|ref|NP_115523.2|Protein
-
Homarus americanus
Homarus americanusHomarus americanus RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Protein (Select 2068748097) (1)
BioProject
-
Taxonomy Links for Protein (Select 2068748105) (1)
Taxonomy
-
Interleukin 17A effect on monocyte-derived dendritic cells
Interleukin 17A effect on monocyte-derived dendritic cellsAccession: GDS5817GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024