NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001502724.8
Allele description [Variation Report for NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=)]
NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=)
Condition(s)
-
G-protein coupled receptor 111 [Homo sapiens]
G-protein coupled receptor 111 [Homo sapiens]gi|84781721|ref|NP_722581.2|Protein
-
gatB [Methanothermobacter thermautotrophicus str. Delta H]
gatB [Methanothermobacter thermautotrophicus str. Delta H]Gene ID:1471688Gene
-
1471688[uid] AND (alive[prop]) (1)
Gene
-
Rattus norvegicus potassium channel auxiliary subunit KChIP1b mRNA, complete cds
Rattus norvegicus potassium channel auxiliary subunit KChIP1b mRNA, complete cdsgi|19743733|gb|AY082658.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024