NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003589829.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro)]
NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro)
Condition(s)
-
ninjurin-1 [Homo sapiens]
ninjurin-1 [Homo sapiens]gi|148922911|ref|NP_004139.2|Protein
-
glycerophosphodiester phosphodiesterase 1 [Mus musculus]
glycerophosphodiester phosphodiesterase 1 [Mus musculus]gi|9625018|ref|NP_062526.1|Protein
-
Homo sapiens defensin, beta 105B, mRNA (cDNA clone MGC:156232 IMAGE:40119533), c...
Homo sapiens defensin, beta 105B, mRNA (cDNA clone MGC:156232 IMAGE:40119533), complete cdsgi|118764050|gb|BC128437.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024