NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg) AND Developmental and epileptic encephalopathy, 54
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002548001.9
Allele description [Variation Report for NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg)]
NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024