NM_000035.4(ALDOB):c.351A>G (p.Ala117=) AND Hereditary fructosuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002160080.6
Allele description [Variation Report for NM_000035.4(ALDOB):c.351A>G (p.Ala117=)]
NM_000035.4(ALDOB):c.351A>G (p.Ala117=)
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
-
Protea scolymocephala partial ncpGS gene for glutamine synthase, exons 1-5
Protea scolymocephala partial ncpGS gene for glutamine synthase, exons 1-5gi|56711085|emb|AJ699501.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024