NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe) AND Hyperphosphatasia with intellectual disability syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002843247.2
Allele description [Variation Report for NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)]
NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024