NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) AND Intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260627.3
Allele description [Variation Report for NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)]
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)
Condition(s)
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
-
Concise Conserved Domain Links for Protein (Select 728900) (1)
Conserved Domains
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Last Updated: Jun 23, 2024