Variant (rsID / SNP)
rs199510610
rs199510610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,898,906. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TXNRD2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:19898906
- Cytoband
- 22q11.21
- HGVS
- NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala)
- Allele change
- Missense_G219A
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.
