Variant (rsID / SNP)

rs7447927

rs7447927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STING1. Location: chromosome 5, position 138,861,146. Clinical significance in the table: Benign.

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Reference-table entries

STING1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:138861146
Cytoband: 5q31.2
HGVS: NM_198282.4(STING1):c.144G>C (p.Val48=)
Allele change: Synonymous_V48V

Associated conditions / phenotypes

STING-associated vasculopathy with onset in infancy

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.