Variant (rsID / SNP)

rs200361192

rs200361192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFKB2. Location: chromosome 10, position 104,155,730. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NFKB2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:104155730
Cytoband: 10q24.32
HGVS: NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys)
Allele change: Missense_Y5C

Associated conditions / phenotypes

Immunodeficiency, common variable, 10

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.