Variant (rsID / SNP)

rs436857

rs436857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL12RB1. Location: chromosome 19, position 18,197,635. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IL12RB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:18197635
Cytoband: 19p13.11
HGVS: NM_005535.3(IL12RB1):c.-2C>T
Allele change: Silent

Associated conditions / phenotypes

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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.