NM_001130438.3(SPTAN1):c.1806+4A>G AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081620.15
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.1806+4A>G]
NM_001130438.3(SPTAN1):c.1806+4A>G
Condition(s)
-
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1 [Homo sa...
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1 [Homo sapiens]gi|1824670926|ref|NP_000274.3|Protein
-
Mus musculus tubulin, alpha 3A (Tuba3a), mRNA
Mus musculus tubulin, alpha 3A (Tuba3a), mRNAgi|1134612253|ref|NM_009446.3|Nucleotide
-
Pcsk4 proprotein convertase subtilisin/kexin type 4 [Mus musculus]
Pcsk4 proprotein convertase subtilisin/kexin type 4 [Mus musculus]Gene ID:18551Gene
-
18551[uid] AND (alive[prop]) (1)
Gene
-
Head lice: Learn More – How can head lice be treated? - InformedHealth.org
Head lice: Learn More – How can head lice be treated? - InformedHealth.org
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024