Variant (rsID / SNP)

rs114820168

rs114820168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRAK4. Location: chromosome 12, position 44,177,510. Clinical significance in the table: Likely benign.

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Reference-table entries

IRAK4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:44177510
Cytoband: 12q12
HGVS: NM_016123.4(IRAK4):c.1171C>T (p.Arg391Cys)
Allele change: Missense_R267C

Associated conditions / phenotypes

Immunodeficiency 67

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.