Variant (rsID / SNP)

rs397518423

rs397518423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3CD. Location: chromosome 1, position 9,787,030. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIK3CDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:9787030
Cytoband: 1p36.22
HGVS: NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
Allele change: Missense_E1021K

Associated conditions / phenotypes

Immunodeficiency 14|Inherited Immunodeficiency Diseases

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.