Variant (rsID / SNP)

rs587777709

rs587777709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3R1. Location: chromosome 5, position 67,589,663. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIK3R1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:67589663
Cytoband: 5q13.1
HGVS: NM_181523.3(PIK3R1):c.1425+1G>T
Allele change: Silent

Associated conditions / phenotypes

Immunodeficiency 36|SHORT syndrome|Agammaglobulinemia 7, autosomal recessive|Immunodeficiency 36

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.