NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001215479.7
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)]
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
Condition(s)
-
Homo sapiens FLNA mRNA for filamin A, complete cds, clone: ARe27E03
Homo sapiens FLNA mRNA for filamin A, complete cds, clone: ARe27E03gi|53791220|dbj|AB191260.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024