Variant (rsID / SNP)

rs3730089

rs3730089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3R1. Location: chromosome 5, position 67,588,148. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PIK3R1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:67588148
Cytoband: 5q13.1
HGVS: NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
Allele change: Missense_M326I

Associated conditions / phenotypes

Immunodeficiency 36|Agammaglobulinemia 7, autosomal recessive|SHORT syndrome

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.