NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003753138.1
Allele description [Variation Report for NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr)]
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr)
Condition(s)
-
Aphyocypris normalis mitochondrial DNA, complete genome
Aphyocypris normalis mitochondrial DNA, complete genomegi|332886888|dbj|AP011396.1|Nucleotide
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Last Updated: Feb 28, 2024