Variant (rsID / SNP)

rs201658653

rs201658653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,906,498. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TXNRD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:19906498
Cytoband: 22q11.21
HGVS: NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile)
Allele change: Missense_V87I

Associated conditions / phenotypes

Primary dilated cardiomyopathy

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.