Variant (rsID / SNP)

rs33963346

rs33963346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK4. Location: chromosome 20, position 43,653,713. Clinical significance in the table: Benign.

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Reference-table entries

STK4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:43653713
Cytoband: 20q13.12
HGVS: NM_006282.5(STK4):c.1247C>T (p.Pro416Leu)
Allele change: Missense_P416L

Associated conditions / phenotypes

Combined immunodeficiency due to STK4 deficiency

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.