Variant (rsID / SNP)

rs143351602

rs143351602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,199,033. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LRBAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:151199033
Cytoband: 4q31.3
HGVS: NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)
Allele change: Missense_R2814W

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.