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Variant (rsID / SNP)

rs869312840

CSNK2A1

rs869312840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSNK2A1. Location: chromosome 20, position 472,926. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CSNK2A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:472926
Cytoband
20p13
HGVS
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
Allele change
Missense_K198R

Associated conditions / phenotypes

Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases|See cases|Neurodevelopmental delay

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.