NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) AND Neurodevelopmental delay
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002274036.2
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)]
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
Condition(s)
- Name:
- Neurodevelopmental delay
- Identifiers:
- MedGen: C4022738; Human Phenotype Ontology: HP:0012758
-
PREDICTED: Homo sapiens pseudopodium enriched atypical kinase 1 (PEAK1), transcr...
PREDICTED: Homo sapiens pseudopodium enriched atypical kinase 1 (PEAK1), transcript variant X2, mRNAgi|2462545906|ref|XM_054378817.1|Nucleotide
-
spike glycoprotein, partial [Infectious bronchitis virus]
spike glycoprotein, partial [Infectious bronchitis virus]gi|2720466761|gb|WZU87050.1|Protein
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Last Updated: Sep 29, 2024