NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Jul 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000710510.23
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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024