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Variant (rsID / SNP)

rs148369169

IFIH1

rs148369169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,130,397. 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
2:163130397
Cytoband
2q24.2
HGVS
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
Allele change
Missense_A788T

Associated conditions / phenotypes

Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7

Public references

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