NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002515946.3
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 TBLA_0D01120 [Henningerozyma blattae CBS 6284]
hypothetical protein TBLA_0D01120 [Henningerozyma blattae CBS 6284]gi|387513181|emb|CCH60620.1|Protein
-
Putative Glycoside Hydrolase Family 72 [Podospora anserina S mat+]
Putative Glycoside Hydrolase Family 72 [Podospora anserina S mat+]gi|681097424|emb|CDP27468.1|Protein
-
COCSUDRAFT_47298 [Coccomyxa subellipsoidea C-169]
COCSUDRAFT_47298 [Coccomyxa subellipsoidea C-169]Gene ID:17041441Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024