NM_014141.6(CNTNAP2):c.1328G>A (p.Ser443Asn) AND Cortical dysplasia-focal epilepsy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001370377.7
Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1328G>A (p.Ser443Asn)]
NM_014141.6(CNTNAP2):c.1328G>A (p.Ser443Asn)
Condition(s)
-
cyclin-dependent kinase 15 isoform X4 [Homo sapiens]
cyclin-dependent kinase 15 isoform X4 [Homo sapiens]gi|767919302|ref|XP_011509956.1|Protein
-
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Otolemur garnettii]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Otolemur garnettii]Gene ID:100948814Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024