NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003021884.2
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His)]
NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His)
Condition(s)
-
Homologene neighbors for GEO Profiles (Select 78961662) (0)
GEO Profiles
-
Gene Links for GEO Profiles (Select 78959557) (1)
Gene
-
MTDH metadherin [Homo sapiens]
MTDH metadherin [Homo sapiens]Gene ID:92140Gene
-
Related DataSets for GEO Profiles (Select 116777443) (1)
GEO DataSets
-
Ruptured intracranial aneurysms
Ruptured intracranial aneurysmsAccession: GDS5186GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024