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Variant (rsID / SNP)

rs35744605

IFIH1

rs35744605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,134,090. 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
2:163134090
Cytoband
2q24.2
HGVS
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
Allele change
Nonsense_E627X

Associated conditions / phenotypes

Singleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related immunodeficiency|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.