Variant (rsID / SNP)
rs3739274
rs3739274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,900,382. 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
- 8:133900382
- Cytoband
- 8q24.22
- HGVS
- NM_003235.5(TG):c.2330C>T (p.Pro777Leu)
- Allele change
- Missense_P777L
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.