NM_002088.5(GRIK5):c.246G>C (p.Met82Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002723348.1
Allele description [Variation Report for NM_002088.5(GRIK5):c.246G>C (p.Met82Ile)]
NM_002088.5(GRIK5):c.246G>C (p.Met82Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Feb 13, 2023