NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs) AND Intellectual disability, autosomal dominant 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250746.1
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)]
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)
Condition(s)
-
Duchenne Muscular Dystrophy response to oxandrolone (HG-U133B)
Duchenne Muscular Dystrophy response to oxandrolone (HG-U133B)Accession: GDS1334GEO DataSets
-
Related DataSets for GEO Profiles (Select 12610398) (1)
GEO DataSets
-
txid742054[Organism:noexp] (4)
PopSet
-
Profile neighbors for GEO Profiles (Select 79758062) (55)
GEO Profiles
-
txid111648[Organism:noexp] (3)
Protein
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023