Variant (rsID / SNP)
rs1042580
rs1042580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THBD. Location: chromosome 20, position 23,027,621. Clinical significance in the table: Benign.
Reference-table entries
THBDBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:23027621
- Cytoband
- 20p11.21
- HGVS
- NM_000361.3(THBD):c.*793A>G
- Allele change
- Silent
Associated conditions / phenotypes
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.