NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter) AND Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007076.11
Allele description [Variation Report for NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)]
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024