Variant (rsID / SNP)

rs147650865

rs147650865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYRK1A. Location: chromosome 21, position 38,884,440. Clinical significance in the table: Likely benign.

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Reference-table entries

DYRK1ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:38884440
Cytoband: 21q22.13
HGVS: NM_001347721.2(DYRK1A):c.1871A>T (p.Tyr624Phe)
Allele change: Missense_Y633F

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.