NM_000035.4(ALDOB):c.759C>T (p.Thr253=) AND Hereditary fructosuria
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367438.16
Allele description [Variation Report for NM_000035.4(ALDOB):c.759C>T (p.Thr253=)]
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
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
Assertion and evidence details
Last Updated: Feb 20, 2024