Variant (rsID / SNP)

rs145857775

rs145857775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYRK1A. Location: chromosome 21, position 38,865,433. Clinical significance in the table: Benign.

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Reference-table entries

DYRK1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:38865433
Cytoband: 21q22.13
HGVS: NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)
Allele change: Missense_T356A

Associated conditions / phenotypes

DYRK1A-related intellectual disability syndrome|History of neurodevelopmental disorder

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.