NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002642539.3
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)]
NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)
Condition(s)
-
Rattus norvegicus transmembrane protein 49, mRNA (cDNA clone MGC:72304 IMAGE:559...
Rattus norvegicus transmembrane protein 49, mRNA (cDNA clone MGC:72304 IMAGE:5598561), complete cdsgi|38197343|gb|BC061721.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024