Variant (rsID / SNP)

rs2001616

rs2001616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,404,066. Clinical significance in the table: Benign.

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Reference-table entries

DUOX2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:45404066
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu)
Allele change: Missense_P138L

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.