NM_000478.6(ALPL):c.612C>T (p.Ile204=) AND Hypophosphatasia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098040.6
Allele description [Variation Report for NM_000478.6(ALPL):c.612C>T (p.Ile204=)]
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
Condition(s)
- Name:
- Hypophosphatasia
- Synonyms:
- Phosphoethanol-aminuria
- Identifiers:
- MONDO: MONDO:0018570; MedGen: C0020630
Assertion and evidence details
Last Updated: Apr 15, 2024