Variant (rsID / SNP)

rs146152769

rs146152769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAX1. Location: chromosome 1, position 154,247,666. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HAX1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:154247666
Cytoband: 1q21.3
HGVS: NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
Allele change: Missense_P150L

Associated conditions / phenotypes

Kostmann 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.