NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer) AND Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- Germline classification:
- Likely pathogenic (1 submission)
- 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:
- RCV001807954.1
Allele description [Variation Report for NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)]
NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023