Variant (rsID / SNP)

rs201391000

rs201391000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,864,680. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TXNRD2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:19864680
Cytoband: 22q11.21
HGVS: NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His)
Allele change: Missense_R508H

Associated conditions / phenotypes

Cardiovascular phenotype|Primary dilated cardiomyopathy

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.