NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs) AND Intellectual disability, autosomal dominant 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001957450.4
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs)]
NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs)
Condition(s)
-
Homo sapiens zyg-11 related cell cycle regulator (ZER1), transcript variant 1, m...
Homo sapiens zyg-11 related cell cycle regulator (ZER1), transcript variant 1, mRNAgi|1519313577|ref|NM_006336.4|Nucleotide
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Last Updated: Sep 29, 2024