NM_000035.4(ALDOB):c.640T>C (p.Tyr214His) AND Hereditary fructosuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279848.1
Allele description [Variation Report for NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)]
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
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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protein LSM14 homolog B isoform X10 [Homo sapiens]
protein LSM14 homolog B isoform X10 [Homo sapiens]gi|2462579649|ref|XP_054179070.1|Protein
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Microbe sample from Escovopsis sp. ICBGSID712
Microbe sample from Escovopsis sp. ICBGSID712biosample
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Microbe sample from Escovopsis clavata
Microbe sample from Escovopsis clavatabiosample
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Homo sapiens SCAF_1103279188360 genomic scaffold, whole genome shotgun sequence
Homo sapiens SCAF_1103279188360 genomic scaffold, whole genome shotgun sequencegi|157399255|gb|DS486059.1||gnl|WGS |SCAF_1103279188360Nucleotide
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KIRREL1 [Papio anubis]
KIRREL1 [Papio anubis]Gene ID:101020138Gene
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Last Updated: Jul 29, 2023