Variant (rsID / SNP)
rs76992529
rs76992529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,178,618. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29178618
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.424G>A (p.Val142Ile)
- Allele change
- Missense_V142I
Associated conditions / phenotypes
Amyloidogenic transthyretin amyloidosis|Amyloid Cardiomyopathy, Transthyretin-related|Cardiomyopathy|Cardiovascular phenotype|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome|Anemia|Pancytopenia|Bone marrow hypocellularity|ATTRV122I amyloidosis|Charcot-Marie-Tooth disease|Postural tremor|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.