NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004037840.1
Allele description [Variation Report for NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly)]
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
CD28 antigen [Mus musculus]
CD28 antigen [Mus musculus]gi|31542359|ref|NP_031668.2|Protein
-
Gene Links for GEO Profiles (Select 66720428) (1)
Gene
-
XP-G family Fen1-like nuclease [Schizosaccharomyces pombe]
XP-G family Fen1-like nuclease [Schizosaccharomyces pombe]Gene ID:2543216Gene
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Influenza A effect on plasmacytoid dendritic cells
Influenza A effect on plasmacytoid dendritic cellsAccession: GDS6063GEO DataSets
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Related DataSets for GEO Profiles (Select 132342720) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024