NM_001130438.3(SPTAN1):c.5358-16C>T AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002055825.7
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.5358-16C>T]
NM_001130438.3(SPTAN1):c.5358-16C>T
Condition(s)
-
ankyrin repeat domain 39 [Homo sapiens]
ankyrin repeat domain 39 [Homo sapiens]gi|33667055|ref|NP_057550.2|Protein
-
sh2d5 [Seriola dumerili]
sh2d5 [Seriola dumerili]Gene ID:111233579Gene
-
SH2D5 SH2 domain containing 5 [Pan troglodytes]
SH2D5 SH2 domain containing 5 [Pan troglodytes]Gene ID:749040Gene
-
SH2D5 SH2 domain containing 5 [Bos taurus]
SH2D5 SH2 domain containing 5 [Bos taurus]Gene ID:789769Gene
-
Homologene neighbors for GEO Profiles (Select 85240062) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024