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Variant (rsID / SNP)

rs767236339

TXNRD2

rs767236339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,907,121. 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
22:19907121
Cytoband
22q11.21
HGVS
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=)
Allele change
Synonymous_A58A

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Primary dilated cardiomyopathy

Public references

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