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Variant (rsID / SNP)

rs121918095

TTR

rs121918095 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,178,565. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:29178565
Cytoband
18q12.1
HGVS
NM_000371.4(TTR):c.371G>A (p.Arg124His)
Allele change
Missense_R124H

Associated conditions / phenotypes

Amyloidogenic transthyretin amyloidosis|Cardiovascular phenotype|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.