Variant (rsID / SNP)

rs5748469

rs5748469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,907,099. Clinical significance in the table: Benign.

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Reference-table entries

TXNRD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:19907099
Cytoband: 22q11.21
HGVS: NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser)
Allele change: Missense_A66S

Associated conditions / phenotypes

Cardiovascular phenotype|Primary dilated cardiomyopathy|Glucocorticoid deficiency 5

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.