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Variant (rsID / SNP)

rs201913959

TXNRD2

rs201913959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,898,912. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TXNRD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:19898912
Cytoband
22q11.21
HGVS
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
Allele change
Missense_S217Y

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Cardiovascular phenotype

Public references

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