Variant (rsID / SNP)

rs530719719

rs530719719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,393,426. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DUOX2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 15:45393426
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)

Associated conditions / phenotypes

Familial thyroid dyshormonogenesis|Congenital hypothyroidism|Nongoitrous Euthyroid Hyperthyrotropinemia|Inborn genetic diseases|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.