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Variant (rsID / SNP)

rs121912575

TNXB

rs121912575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNXB. Location: chromosome 6, position 32,052,313. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNXBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:32052313
Cytoband
6p21.33
HGVS
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
Allele change
Missense_V1108M

Associated conditions / phenotypes

Ehlers-Danlos syndrome due to tenascin-X deficiency|See cases|Ehlers-Danlos syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.