Variant (rsID / SNP)

rs185819

rs185819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNXB. Location: chromosome 6, position 32,050,067. Clinical significance in the table: Benign.

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Reference-table entries

TNXBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32050067
Cytoband: 6p21.33
HGVS: NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)
Allele change: Missense_H1161R

Associated conditions / phenotypes

Vesicoureteral reflux 8|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome

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.