Variant (rsID / SNP)

rs28933981

rs28933981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,178,610. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TTRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:29178610
Cytoband: 18q12.1
HGVS: NM_000371.4(TTR):c.416C>T (p.Thr139Met)
Allele change: Missense_T139M

Associated conditions / phenotypes

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF|Cardiovascular phenotype|Amyloidogenic transthyretin amyloidosis|Cardiomyopathy|Charcot-Marie-Tooth disease

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.