NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) AND Adult hypophosphatasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465357.1
Allele description [Variation Report for NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)]
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024