NM_173354.5(SIK1):c.2226C>G (p.Pro742=) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000920335.8
Allele description [Variation Report for NM_173354.5(SIK1):c.2226C>G (p.Pro742=)]
NM_173354.5(SIK1):c.2226C>G (p.Pro742=)
Condition(s)
-
Mus musculus doublecortin, mRNA (cDNA clone MGC:67049 IMAGE:6825750), complete c...
Mus musculus doublecortin, mRNA (cDNA clone MGC:67049 IMAGE:6825750), complete cdsgi|34784214|gb|BC057010.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024