NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) AND Hyperphosphatasia with intellectual disability syndrome 2
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001080844.22
Allele description [Variation Report for NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)]
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024