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Variant (rsID / SNP)

rs587777446

IFIH1

rs587777446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,130,423. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IFIH1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:163130423
Cytoband
2q24.2
HGVS
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
Allele change
Missense_R779H

Associated conditions / phenotypes

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