Variant (rsID / SNP)

rs1139793

rs1139793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TXNRD2. Location: chromosome 22, position 19,868,218. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TXNRD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:19868218
Cytoband: 22q11.21
HGVS: NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr)
Allele change: Missense_I370T

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.