NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001312620.8
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg)]
NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Melanotus sp. BOLD:AAH036...
cytochrome oxidase subunit 1, partial (mitochondrion) [Melanotus sp. BOLD:AAH0369]gi|311987621|gb|ADQ22225.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024