Variant (rsID / SNP)

rs200793895

rs200793895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,953,742. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:133953742
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.5188C>T (p.Arg1730Cys)
Allele change: Missense_R1730C

Associated conditions / phenotypes

Iodotyrosyl coupling 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.