NM_000152.5(GAA):c.1160TGG[1] (p.Val388del) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002814630.3
Allele description [Variation Report for NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)]
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
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
-
L-fucose kinase [Homo sapiens]
L-fucose kinase [Homo sapiens]gi|63175654|ref|NP_659496.2|Protein
-
RecName: Full=Beta-lactamase inhibitory protein; Short=BLIP; Flags: Precursor
RecName: Full=Beta-lactamase inhibitory protein; Short=BLIP; Flags: Precursorgi|543897|sp|P35804.1|BLIP_STRCLProtein
-
Hdac3 histone deacetylase 3 [Mus musculus]
Hdac3 histone deacetylase 3 [Mus musculus]Gene ID:15183Gene
-
15183[uid] AND (alive[prop]) (1)
Gene
-
ACAT1 [Panthera tigris]
ACAT1 [Panthera tigris]Gene ID:102959922Gene
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Last Updated: Sep 29, 2024