NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) AND Cortical dysplasia-focal epilepsy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000540016.7
Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr)]
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr)
Condition(s)
-
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript var...
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript variant X15, mRNAgi|1907153843|ref|XM_006538482.5|Nucleotide
-
peptidase 1 [Dermatophagoides farinae]
peptidase 1 [Dermatophagoides farinae]gi|2205477332|ref|XP_046919163.1|Protein
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Last Updated: Sep 29, 2024