Variant (rsID / SNP)

rs1813134

rs1813134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,231,371. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRBABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:151231371
Cytoband: 4q31.3
HGVS: NM_001364905.1(LRBA):c.7849+10A>G
Allele change: Silent

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.