NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735322.2
Allele description [Variation Report for NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)]
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Autistic behavior
- Identifiers:
- MedGen: C0856975; Human Phenotype Ontology: HP:0000729
- Name:
- Expressive language delay
- Identifiers:
- MedGen: C0454641; Human Phenotype Ontology: HP:0002474
- Name:
- Febrile seizure (within the age range of 3 months to 6 years)
- Synonyms:
- Febrile seizures; febrile convulsion
- Identifiers:
- MedGen: C0009952; Human Phenotype Ontology: HP:0002373
- Name:
- Macrocephaly
- Synonyms:
- Macrocephalus; large head
- Identifiers:
- MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Assertion and evidence details
Last Updated: Oct 8, 2024