Variant (rsID / SNP)

rs184813324

rs184813324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNXB. Location: chromosome 6, position 32,037,501. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TNXBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:32037501
Cytoband: 6p21.33
HGVS: NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu)
Allele change: Missense_F1806L

Associated conditions / phenotypes

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

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.