NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001234312.6
Allele description [Variation Report for NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile)]
NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile)
Condition(s)
-
sequestosome-1 isoform 2 [Mus musculus]
sequestosome-1 isoform 2 [Mus musculus]gi|595582170|ref|NP_001277698.1|Protein
-
Synthetic construct Mus musculus casein beta, mRNA (cDNA clone MGC:29328 IMAGE:5...
Synthetic construct Mus musculus casein beta, mRNA (cDNA clone MGC:29328 IMAGE:5028194), complete cdsgi|17512465|gb|BC019189.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 23, 2022