NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) AND CDKL5 disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003169069.2
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)]
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)
Condition(s)
- Name:
- CDKL5 disorder
- Identifiers:
- MONDO: MONDO:0100039; MedGen: CN296942
-
bifunctional adenosylcobinamide kinase/adenosylcobinamide-phosphate guanylyltran...
bifunctional adenosylcobinamide kinase/adenosylcobinamide-phosphate guanylyltransferase [Escherichia coli]gi|2754070214|gnl|PRJNA1112118|ABFT 150|gb|XCJ03020.1|Protein
-
Nucleotide Links for Gene (Select 142827) (16)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024