Variant (rsID / SNP)
rs121918093
rs121918093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,172,907. Clinical significance in the table: Pathogenic.
Reference-table entries
TTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29172907
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.118G>A (p.Val40Ile)
- Allele change
- Missense_V40I
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.