NM_000035.4(ALDOB):c.931C>T (p.Leu311=) AND Hereditary fructosuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003597607.2
Allele description [Variation Report for NM_000035.4(ALDOB):c.931C>T (p.Leu311=)]
NM_000035.4(ALDOB):c.931C>T (p.Leu311=)
Condition(s)
- Name:
- Hereditary fructosuria
- Synonyms:
- Hereditary fructose intolerance; Fructose-1-phosphate aldolase deficiency; Aldolase B deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009249; MedGen: C0016751; Orphanet: 469; OMIM: 229600; Human Phenotype Ontology: HP:0005973
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decrease in DNA methylation 1 [Ostreococcus tauri]
decrease in DNA methylation 1 [Ostreococcus tauri]gi|1199290353|gb|OUS45453.1||gnl|WG T|BE221DRAFT_193144Protein
-
NF-kappa-B inhibitor-interacting Ras-like protein 2 [Mus musculus]
NF-kappa-B inhibitor-interacting Ras-like protein 2 [Mus musculus]gi|21312616|ref|NP_082300.1|Protein
-
Zea mays pre-mRNA-processing ATP-dependent RNA helicase prp-5 (LOC100281205), mR...
Zea mays pre-mRNA-processing ATP-dependent RNA helicase prp-5 (LOC100281205), mRNAgi|226494635|ref|NM_001154124.1|Nucleotide
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Bicc1 [Mesocricetus auratus]
Bicc1 [Mesocricetus auratus]Gene ID:101828708Gene
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Last Updated: Sep 29, 2024