Variant (rsID / SNP)
rs2069569
rs2069569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG, SLA. Location: chromosome 8, position 134,108,546. Clinical significance in the table: Benign.
Reference-table entries
TGBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:134108546
- Cytoband
- 8q24.22
- HGVS
- NM_003235.5(TG):c.7501T>C (p.Trp2501Arg)
- Allele change
- Missense_W2501R
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.