NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter) AND PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002464241.2
Allele description [Variation Report for NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)]
NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 27, 2023