NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln) AND Intellectual disability, autosomal dominant 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463982.1
Allele description [Variation Report for NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)]
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023