Variant (rsID / SNP)

rs3750319

rs3750319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRRC8A. Location: chromosome 9, position 131,670,919. Clinical significance in the table: Benign.

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Reference-table entries

LRRC8ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:131670919
Cytoband: 9q34.11
HGVS: NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=)
Allele change: Synonymous_R492R

Associated conditions / phenotypes

Agammaglobulinemia 5, autosomal dominant

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.