Variant (rsID / SNP)

rs56230731

rs56230731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IKBKB. Location: chromosome 8, position 42,174,380. Clinical significance in the table: Benign.

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Reference-table entries

IKBKBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:42174380
Cytoband: 8p11.21
HGVS: NM_001556.3(IKBKB):c.1083G>A (p.Leu361=)
Allele change: Synonymous_L302L

Associated conditions / phenotypes

Severe combined immunodeficiency due to IKK2 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.