Variant (rsID / SNP)

rs138353181

rs138353181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,397,993. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DUOX2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:45397993
Cytoband: 15q21.1
HGVS: NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr)
Allele change: Missense_A728T

Associated conditions / phenotypes

Thyroid dyshormonogenesis 6|Meckel syndrome, type 11

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.