Variant (rsID / SNP)
rs2239689
rs2239689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNXB. Location: chromosome 6, position 32,030,284. Clinical significance in the table: Benign.
Reference-table entries
TNXBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:32030284
- Cytoband
- 6p21.33
- HGVS
- NM_001365276.2(TNXB):c.6842-24C>T
- Allele change
- Silent
Associated conditions / phenotypes
Vesicoureteral reflux 8|Ehlers-Danlos syndrome due to tenascin-X deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.