NM_053013.4(ENO3):c.544A>G (p.Met182Val) AND Glycogen storage disease due to muscle beta-enolase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000698383.7
Allele description [Variation Report for NM_053013.4(ENO3):c.544A>G (p.Met182Val)]
NM_053013.4(ENO3):c.544A>G (p.Met182Val)
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
-
hypothetical protein NDAI_0A01370 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0A01370 [Naumovozyma dairenensis CBS 421]gi|343766304|emb|CCD22295.1|Protein
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glycoside hydrolase family 65 protein [Bifidobacterium longum]
glycoside hydrolase family 65 protein [Bifidobacterium longum]gi|1979351549|gnl|PRJNA698753|JQN89 5|gb|QRI55808.1|Protein
-
Profile neighbors for GEO Profiles (Select 112459659) (199)
GEO Profiles
-
uncharacterized protein [Saccharomyces cerevisiae S288C]
uncharacterized protein [Saccharomyces cerevisiae S288C]Gene ID:856818Gene
-
Gene Links for GEO Profiles (Select 112462199) (1)
Gene
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Last Updated: Sep 29, 2024