NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) 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:
- RCV002273990.1
Allele description [Variation Report for NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)]
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
Condition(s)
- Name:
- Neurodevelopmental delay
- Identifiers:
- MedGen: C4022738; Human Phenotype Ontology: HP:0012758
-
PREDICTED: Homo sapiens DEAD/H-box helicase 11 (DDX11), transcript variant X13, ...
PREDICTED: Homo sapiens DEAD/H-box helicase 11 (DDX11), transcript variant X13, mRNAgi|2462530433|ref|XM_054371314.1|Nucleotide
-
Protein Links for PopSet (Select 542130181) (5)
Protein
-
acyloxyacyl hydrolase isoform X3 [Homo sapiens]
acyloxyacyl hydrolase isoform X3 [Homo sapiens]gi|2462613992|ref|XP_054214020.1|Protein
-
OMIM(Genes) for MedGen (Select 8912) (1)
OMIM
-
Bombus affinis isolate:iyBomAffi1
Bombus affinis isolate:iyBomAffi1Bombus affinis isolate:iyBomAffi1 RefSeq Raw sequence readsBioProject
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Last Updated: May 1, 2024