Variant (rsID / SNP)
rs2069556
rs2069556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,920,518. Clinical significance in the table: Benign.
Reference-table entries
TGBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:133920518
- Cytoband
- 8q24.22
- HGVS
- NM_003235.5(TG):c.3935A>G (p.Asp1312Gly)
- Allele change
- Missense_D1312G
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.