Variant (rsID / SNP)

rs144543420

rs144543420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,386,810. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DUOX2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:45386810
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.4475G>A (p.Arg1492His)
Allele change: Missense_R1492H

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.