Variant (rsID / SNP)

rs121918139

rs121918139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IYD. Location: chromosome 6, position 150,710,656. Clinical significance in the table: Pathogenic.

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Reference-table entries

IYDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:150710656
Cytoband: 6q25.1
HGVS: NM_203395.3(IYD):c.347T>C (p.Ile116Thr)
Allele change: Silent

Associated conditions / phenotypes

Iodotyrosine deiodination defect

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.