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Variant (rsID / SNP)

rs143625481

LRBA

rs143625481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,837,660. 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
4:151837660
Cytoband
4q31.3
HGVS
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val)
Allele change
Missense_L263V

Associated conditions / phenotypes

Combined immunodeficiency due to LRBA deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.