Variant (rsID / SNP)

rs116526975

rs116526975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,392,781. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRBAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:151392781
Cytoband: 4q31.3
HGVS: NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr)
Allele change: Missense_I2221T

Associated conditions / phenotypes

Combined immunodeficiency due to LRBA 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.