Variant (rsID / SNP)

rs386134269

rs386134269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,175,090. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TTRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29175090
Cytoband: 18q12.1
HGVS: NM_000371.4(TTR):c.208A>C (p.Ser70Arg)
Allele change: Missense_S70R

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.