NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) AND Developmental and epileptic encephalopathy, 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 16, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000145534.6
Allele description [Variation Report for NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)]
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
Condition(s)
-
hypothetical protein NDAI_0A08410 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0A08410 [Naumovozyma dairenensis CBS 421]gi|343767003|emb|CCD22994.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024