Variant (rsID / SNP)

rs377052919

rs377052919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,171,933. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TTRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:29171933
Cytoband: 18q12.1
HGVS: NM_000371.4(TTR):c.68C>T (p.Thr23Met)
Allele change: Missense_T23M

Associated conditions / phenotypes

Amyloidogenic transthyretin amyloidosis

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.