NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001307616.8
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr)]
NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr)
Condition(s)
-
Mus musculus ASF1 anti-silencing function 1 homolog A (S. cerevisiae) (Asf1a), m...
Mus musculus ASF1 anti-silencing function 1 homolog A (S. cerevisiae) (Asf1a), mRNAgi|13384963|ref|NM_025541.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024