Variant (rsID / SNP)

rs869312708

rs869312708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYRK1A. Location: chromosome 21, position 38,878,494. 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: 21:38878494
Cytoband: 21q22.13
HGVS: NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
Allele change: Nonsense_Q547X

Associated conditions / phenotypes

DYRK1A-related intellectual disability syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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