Variant (rsID / SNP)

rs119472029

rs119472029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,402,093. Clinical significance in the table: Pathogenic.

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Reference-table entries

DUOX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:45402093
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)
Allele change: Missense_R376W

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.