NM_014141.6(CNTNAP2):c.1227C>A (p.Leu409=) AND Cortical dysplasia-focal epilepsy syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001469621.7
Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1227C>A (p.Leu409=)]
NM_014141.6(CNTNAP2):c.1227C>A (p.Leu409=)
Condition(s)
-
Mus musculus amidohydrolase domain containing 2 (Amdhd2), mRNA
Mus musculus amidohydrolase domain containing 2 (Amdhd2), mRNAgi|146198690|ref|NM_172935.4|Nucleotide
-
kirrel3l [Cheilinus undulatus]
kirrel3l [Cheilinus undulatus]Gene ID:121513360Gene
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024