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Variant (rsID / SNP)

rs78218009

TREX1

rs78218009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREX1. Location: chromosome 3, position 48,508,544. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TREX1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:48508544
Cytoband
3p21.31
HGVS
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
Allele change
Silent

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1

Public references

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