NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000706526.6
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr)]
NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr)
Condition(s)
-
arginine N-succinyltransferase, alpha chain [Burkholderia sp. YI23]
arginine N-succinyltransferase, alpha chain [Burkholderia sp. YI23]gi|357935245|gnl|calssnu|BYI23_A009 b|AET88804.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024