NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) AND Low alkaline phosphatase
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490707.1
Allele description [Variation Report for NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)]
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
Condition(s)
- Name:
- Low alkaline phosphatase
- Identifiers:
- MedGen: C1860130; Human Phenotype Ontology: HP:0003282
Assertion and evidence details
Last Updated: Feb 28, 2024