NM_173354.5(SIK1):c.2211C>T (p.Gly737=) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001490097.7
Allele description [Variation Report for NM_173354.5(SIK1):c.2211C>T (p.Gly737=)]
NM_173354.5(SIK1):c.2211C>T (p.Gly737=)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 59192322) (20)
GEO Profiles
-
COL4A4 collagen type IV alpha 4 chain [Homo sapiens]
COL4A4 collagen type IV alpha 4 chain [Homo sapiens]Gene ID:1286Gene
-
Gene Links for GEO Profiles (Select 59201434) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024