NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) AND Developmental and epileptic encephalopathy, 54
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000585859.1
Allele description [Variation Report for NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)]
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022