Variant (rsID / SNP)
rs121918083
rs121918083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,172,877. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29172877
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
- Allele change
- Missense_C30R
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.