Variant (rsID / SNP)

rs137853323

rs137853323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IKBKG. Clinical significance in the table: Pathogenic.

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Reference-table entries

IKBKGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)
Allele change: Nonsense_R130X

Associated conditions / phenotypes

Incontinentia pigmenti syndrome

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.