Variant (rsID / SNP)

rs121909180

rs121909180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC5A5. Location: chromosome 19, position 17,992,969. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC5A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:17992969
Cytoband: 19p13.11
HGVS: NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)
Allele change: Missense_G395R

Associated conditions / phenotypes

Familial thyroid dyshormonogenesis 1|Congenital hypothyroidism

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.