NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) AND Infantile hypophosphatasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014672.28
Allele description [Variation Report for NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)]
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024