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Variant (rsID / SNP)

rs797045041

DYRK1A

rs797045041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYRK1A. Location: chromosome 21, position 38,877,746. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DYRK1APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
21:38877746
Cytoband
21q22.13
HGVS
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
Allele change
Missense_R467Q

Associated conditions / phenotypes

DYRK1A-related intellectual disability syndrome|Complex neurodevelopmental disorder|Intellectual disability

Public references

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