NM_000035.4(ALDOB):c.539del (p.Gln180fs) AND Hereditary fructosuria
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002690142.3
Allele description [Variation Report for NM_000035.4(ALDOB):c.539del (p.Gln180fs)]
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
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: Sep 29, 2024