NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000457484.18
Allele description [Variation Report for NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)]
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)
Condition(s)
-
popset representative uid 923716571[word] (76)
Protein
-
Taxonomy Links for GEO Profiles (Select 111594519) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024