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Gene entry

IFIH1

interferon induced with helicase C domain 1

Chromosome
2
Cytoband
2q24.2
Variants (rsID)
29

IFIH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q24.2). Its official name is “interferon induced with helicase C domain 1”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

13 reference-table entries with clinical significance.

  • rs1990760Benignsingle nucleotide variantSingleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs35667974Benignsingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs35732034Benignsingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1|Immunodeficiency 95
  • rs3747517Benignsingle nucleotide variantSingleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7
  • rs145641024Conflicting interpretationssingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs148369169Conflicting interpretationssingle nucleotide variantSingleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7
  • rs35744605Conflicting interpretationssingle nucleotide variantSingleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related immunodeficiency|Aicardi-Goutieres syndrome 7
  • rs74162075Conflicting interpretationssingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs79324540Conflicting interpretationssingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs140977021Likely benignsingle nucleotide variantSingleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7
  • rs376048533Pathogenicsingle nucleotide variantSingleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7
  • rs587777446Pathogenicsingle nucleotide variantAicardi-Goutieres syndrome 7|7 conditions|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1
  • rs587777448Pathogenicsingle nucleotide variantAicardi-Goutieres syndrome 7|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.