NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000636470.18
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)]
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)
Condition(s)
-
malectin precursor [Mus musculus]
malectin precursor [Mus musculus]gi|188497650|ref|NP_780612.2|Protein
-
Coleoptera sp. NZAC 03010568 voucher NZAC:03010568 cytochrome oxidase subunit I ...
Coleoptera sp. NZAC 03010568 voucher NZAC:03010568 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|808157054|gb|KP422098.1|Nucleotide
-
Coleoptera sp. NZAC 03009295 voucher NZAC:03009295 28S ribosomal RNA gene, parti...
Coleoptera sp. NZAC 03009295 voucher NZAC:03009295 28S ribosomal RNA gene, partial sequencegi|983653034|gb|KT439843.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024