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Variant (rsID / SNP)

rs72556554

TREX1

rs72556554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREX1. Location: chromosome 3, position 48,508,395. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TREX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:48508395
Cytoband
3p21.31
HGVS
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
Allele change
Silent

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 1|Systemic lupus erythematosus, susceptibility to|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Inborn genetic diseases|Inborn genetic diseases|Aicardi-Goutieres syndrome 1|Chilblain lupus 1

Public references

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