Variant (rsID / SNP)

rs35250375

rs35250375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,773,531. Clinical significance in the table: Benign.

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Reference-table entries

LRBABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:151773531
Cytoband: 4q31.3
HGVS: NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu)
Allele change: Missense_V1111L

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.