NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002942835.3
Allele description [Variation Report for NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)]
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
Condition(s)
-
Homo sapiens chromosome 6 open reading frame 57, mRNA (cDNA clone MGC:26946 IMAG...
Homo sapiens chromosome 6 open reading frame 57, mRNA (cDNA clone MGC:26946 IMAGE:4817876), complete cdsgi|17390187|gb|BC018085.1|Nucleotide
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Last Updated: Sep 29, 2024