Variant (rsID / SNP)
rs138469414
rs138469414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,913,747. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:133913747
- Cytoband
- 8q24.22
- HGVS
- NM_003235.5(TG):c.3583G>A (p.Gly1195Arg)
- Allele change
- Missense_G1195R
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.