Variant (rsID / SNP)
rs55999987
rs55999987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREX1. Location: chromosome 3, position 48,508,851. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:48508851
- Cytoband
- 3p21.31
- HGVS
- NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.