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Variant (rsID / SNP)

rs138065384

TTR

rs138065384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,172,979. 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
18:29172979
Cytoband
18q12.1
HGVS
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
Allele change
Missense_F64L

Associated conditions / phenotypes

Amyloidogenic transthyretin amyloidosis|Charcot-Marie-Tooth disease|Cardiomyopathy

Public references

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