Variant (rsID / SNP)

rs142285826

rs142285826 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3CD. Location: chromosome 1, position 9,775,972. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PIK3CDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:9775972
Cytoband: 1p36.22
HGVS: NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile)
Allele change: Missense_F146I

Associated conditions / phenotypes

Immunodeficiency 14

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.