NM_001323289.2(CDKL5):c.1109A>G (p.Asn370Ser) AND CDKL5-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527857.1
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1109A>G (p.Asn370Ser)]
NM_001323289.2(CDKL5):c.1109A>G (p.Asn370Ser)
Condition(s)
- Name:
- CDKL5-related disorder
- Identifiers:
-
2-Hydroxyacid oxidase 1 [Mus musculus]
2-Hydroxyacid oxidase 1 [Mus musculus]gi|6754156|ref|NP_034533.1|Protein
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Last Updated: Sep 8, 2024