Variant (rsID / SNP)

rs376048533

rs376048533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,128,887. Clinical significance in the table: Pathogenic.

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Reference-table entries

IFIH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:163128887
Cytoband: 2q24.2
HGVS: NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
Allele change: Missense_R822Q

Associated conditions / phenotypes

Singleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7

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.