NM_053013.4(ENO3):c.716A>G (p.Lys239Arg) AND Glycogen storage disease due to muscle beta-enolase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001882215.4
Allele description [Variation Report for NM_053013.4(ENO3):c.716A>G (p.Lys239Arg)]
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg)
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
-
Rattus norvegicus Fas apoptotic inhibitory molecule 2, mRNA (cDNA clone MGC:1053...
Rattus norvegicus Fas apoptotic inhibitory molecule 2, mRNA (cDNA clone MGC:105316 IMAGE:7314068), complete cdsgi|56269622|gb|BC087606.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024