Variant (rsID / SNP)
rs267607161
rs267607161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,178,543. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TTRPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29178543
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
- Allele change
- Missense_A117S
Associated conditions / phenotypes
Amyloidogenic transthyretin amyloidosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.