NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) AND Neurodevelopmental disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001778779.1
Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)]
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
Assertion and evidence details
Last Updated: Aug 5, 2023