NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) AND Intellectual disability, autosomal dominant 8
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002541569.5
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)
Assertion and evidence details
Last Updated: Sep 29, 2024