Variant (rsID / SNP)

rs16939945

rs16939945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRF8. Location: chromosome 16, position 85,945,249. Clinical significance in the table: Benign.

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Reference-table entries

IRF8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:85945249
Cytoband: 16q24.1
HGVS: NM_002163.4(IRF8):c.432C>T (p.Asp144=)
Allele change: Synonymous_D144D

Associated conditions / phenotypes

Immunodeficiency 32B|Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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