Variant (rsID / SNP)
rs28933979
rs28933979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,172,937. Clinical significance in the table: Pathogenic.
Reference-table entries
TTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29172937
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.148G>A (p.Val50Met)
- Allele change
- Missense_V50M
Associated conditions / phenotypes
Amyloidogenic transthyretin amyloidosis|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome|Cardiomyopathy|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.