NM_000035.4(ALDOB):c.625-15C>T AND Hereditary fructosuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003598486.1
Allele description [Variation Report for NM_000035.4(ALDOB):c.625-15C>T]
NM_000035.4(ALDOB):c.625-15C>T
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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Profile neighbors for GEO Profiles (Select 79788917) (200)
GEO Profiles
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protein phosphatase PTC7 homolog [Homo sapiens]
protein phosphatase PTC7 homolog [Homo sapiens]gi|21281679|ref|NP_644812.1|Protein
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ClinVar for MedGen (Select 154361) (3)
ClinVar
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Homo sapiens microsatellite DXS10135 35 [AAGA]3 gaaagga [AAGA]31 AAAG FS sequenc...
Homo sapiens microsatellite DXS10135 35 [AAGA]3 gaaagga [AAGA]31 AAAG FS sequencegi|1831728660|gb|MT298818.1|Nucleotide
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Microarray technology comparison (3OPHs version 1)
Microarray technology comparison (3OPHs version 1)Accession: GDS222GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024