NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003589478.2
Allele description [Variation Report for NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=)]
NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=)
Condition(s)
-
annexin A8 [Homo sapiens]
annexin A8 [Homo sapiens]gi|4502113|ref|NP_001621.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024