Variant (rsID / SNP)
rs11541479
rs11541479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,906,511. Clinical significance in the table: Benign.
Reference-table entries
TXNRD2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:19906511
- Cytoband
- 22q11.21
- HGVS
- NM_006440.5(TXNRD2):c.246C>T (p.Leu82=)
- Allele change
- Synonymous_L82L
Associated conditions / phenotypes
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.