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Variant (rsID / SNP)

rs2276382

TTR

rs2276382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,178,611. 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
18:29178611
Cytoband
18q12.1
HGVS
NM_000371.4(TTR):c.417G>A (p.Thr139=)
Allele change
Synonymous_T139T

Associated conditions / phenotypes

Cardiovascular phenotype|Amyloidogenic transthyretin amyloidosis|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.