Variant (rsID / SNP)

rs35879351

rs35879351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,520,216. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LRBABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:151520216
Cytoband: 4q31.3
HGVS: NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)
Allele change: Missense_R1997C

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.