NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001899898.3
Allele description [Variation Report for NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)]
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)
Condition(s)
-
CRIM plasmid pLA9, complete sequence
CRIM plasmid pLA9, complete sequencegi|29415027|gb|AY150266.1|Nucleotide
-
Mus musculus insulin receptor-related receptor (Insrr), mRNA
Mus musculus insulin receptor-related receptor (Insrr), mRNAgi|160333072|ref|NM_011832.2|Nucleotide
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Last Updated: Feb 28, 2024