NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000705871.6
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)]
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
Condition(s)
-
Staphylococcus hominis partial 16S rRNA gene, strain ES-134
Staphylococcus hominis partial 16S rRNA gene, strain ES-134gi|237873990|emb|FN393798.1|Nucleotide
-
id2.S inhibitor of DNA binding 2 S homeolog [Xenopus laevis]
id2.S inhibitor of DNA binding 2 S homeolog [Xenopus laevis]Gene ID:447463Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024