Variant (rsID / SNP)

rs76642637

rs76642637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREX1. Location: chromosome 3, position 48,508,554. Clinical significance in the table: Pathogenic.

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Reference-table entries

TREX1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:48508554
Cytoband: 3p21.31
HGVS: NM_033629.6(TREX1):c.500del (p.Ser167fs)

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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