Variant (rsID / SNP)
rs3213119
rs3213119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL12B. Location: chromosome 5, position 158,743,788. Clinical significance in the table: Benign.
Reference-table entries
IL12BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:158743788
- Cytoband
- 5q33.3
- HGVS
- NM_002187.3(IL12B):c.892G>T (p.Val298Phe)
- Allele change
- Missense_V298F
Associated conditions / phenotypes
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.