Variant (rsID / SNP)
rs121908117
rs121908117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREX1. Location: chromosome 3, position 48,508,106. Clinical significance in the table: Pathogenic.
Reference-table entries
TREX1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:48508106
- Cytoband
- 3p21.31
- HGVS
- NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
- Allele change
- Silent
Associated conditions / phenotypes
Aicardi Goutieres syndrome 1, autosomal dominant|Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Chilblain lupus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.