NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs) AND Abnormality of metabolism/homeostasis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814558.1
Allele description [Variation Report for NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs)]
NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs)
Condition(s)
- Name:
- Abnormality of metabolism/homeostasis
- Identifiers:
- MedGen: C4021768; Human Phenotype Ontology: HP:0001939
-
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]gi|558567297|gnl|LASimm|U712_03775| A76703.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023