Variant (rsID / SNP)

rs143471358

rs143471358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,389,453. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DUOX2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:45389453
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
Allele change: Missense_A1277G

Associated conditions / phenotypes

Thyroid dyshormonogenesis 6

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.