NM_053013.4(ENO3):c.639C>T (p.Phe213=) AND Glycogen storage disease due to muscle beta-enolase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002948333.3
Allele description [Variation Report for NM_053013.4(ENO3):c.639C>T (p.Phe213=)]
NM_053013.4(ENO3):c.639C>T (p.Phe213=)
Condition(s)
- Name:
- Glycogen storage disease due to muscle beta-enolase deficiency (GSD13)
- Synonyms:
- GSD XIII; Glycogen storage disease type 13; Enolase-beta deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013046; MedGen: C2752027; Orphanet: 99849; OMIM: 612932
-
SRX19732453 (1)
SRA
-
Profile neighbors for GEO Profiles (Select 128643561) (196)
GEO Profiles
-
GSM7106133[Accession] (3)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024