NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys) AND Intellectual disability, autosomal dominant 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002294934.4
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)]
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)
Condition(s)
-
protein sprouty homolog 1 [Homo sapiens]
protein sprouty homolog 1 [Homo sapiens]gi|40538726|ref|NP_005832.1|Protein
-
Mus musculus colony stimulating factor 3 receptor (granulocyte), mRNA (cDNA clon...
Mus musculus colony stimulating factor 3 receptor (granulocyte), mRNA (cDNA clone MGC:141472 IMAGE:40081333), complete cdsgi|109733231|gb|BC116635.1|Nucleotide
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Last Updated: Sep 29, 2024