Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs1133076

TG

rs1133076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 134,125,682. Clinical significance in the table: Benign.

Reference-table entries

TGBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
8:134125682
Cytoband
8q24.22
HGVS
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln)
Allele change
Missense_R2530Q

Associated conditions / phenotypes

Iodotyrosyl coupling defect

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.