Variant (rsID / SNP)

rs45602038

rs45602038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC5A5. Location: chromosome 19, position 17,999,239. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC5A5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:17999239
Cytoband: 19p13.11
HGVS: NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=)
Allele change: Synonymous_C542C

Associated conditions / phenotypes

Familial thyroid dyshormonogenesis 1

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.