NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002579430.3
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)]
NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)
Condition(s)
-
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]gi|389886549|ref|NP_001254511.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024