NM_000158.4(GBE1):c.22G>A (p.Ala8Thr) AND Glycogen storage disease, type IV
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147823.1
Allele description [Variation Report for NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)]
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
Condition(s)
- Name:
- Glycogen storage disease, type IV (GSD4)
- Synonyms:
- GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500
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Concise Conserved Domain Links for Protein (Select 45594310) (1)
Conserved Domains
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BioProject Links for Nucleotide (Select 2711460822) (1)
BioProject
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chromodomain-helicase-DNA-binding protein 3 isoform X26 [Homo sapiens]
chromodomain-helicase-DNA-binding protein 3 isoform X26 [Homo sapiens]gi|2462552648|ref|XP_054170813.1|Protein
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Taxonomy Links for Nucleotide (Select 18464217) (1)
Taxonomy
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Last Updated: May 1, 2024