Variant (rsID / SNP)

rs121918091

rs121918091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,175,132. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29175132
Cytoband: 18q12.1
HGVS: NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
Allele change: Missense_F84L

Associated conditions / phenotypes

Amyloidogenic transthyretin amyloidosis|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.