NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) AND Cerebral palsy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001796512.1
Allele description [Variation Report for NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)]
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)
Condition(s)
- Name:
- Cerebral palsy
- Identifiers:
- MONDO: MONDO:0006497; MedGen: C0007789; Human Phenotype Ontology: HP:0100021
Assertion and evidence details
Last Updated: Sep 29, 2024