NM_001323289.2(CDKL5):c.978-3T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001919296.4
Allele description [Variation Report for NM_001323289.2(CDKL5):c.978-3T>C]
NM_001323289.2(CDKL5):c.978-3T>C
Condition(s)
-
pepsin B2 precursor [Ailuropoda melanoleuca]
pepsin B2 precursor [Ailuropoda melanoleuca]gi|1741710884|ref|NP_001361178.1|Protein
-
Eukaryotic aspartyl protease [Babesia microti strain RI]
Eukaryotic aspartyl protease [Babesia microti strain RI]gi|1206245089|ref|XP_021338468.1|Protein
-
pepsin B precursor [Canis lupus familiaris]
pepsin B precursor [Canis lupus familiaris]gi|50978660|ref|NP_001003028.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024