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Variant (rsID / SNP)

rs79324540

IFIH1

rs79324540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,128,828. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IFIH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:163128828
Cytoband
2q24.2
HGVS
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
Allele change
Missense_E842K

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1

Public references

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