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Variant (rsID / SNP)

rs117511121

IL12RB1

rs117511121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL12RB1. Location: chromosome 19, position 18,183,095. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IL12RB1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:18183095
Cytoband
19p13.11
HGVS
NM_005535.3(IL12RB1):c.848G>A (p.Arg283Gln)
Allele change
Missense_R283Q

Associated conditions / phenotypes

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Public references

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