Variant (rsID / SNP)

rs138296453

rs138296453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAX1. Location: chromosome 1, position 154,248,166. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HAX1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:154248166
Cytoband: 1q21.3
HGVS: NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)
Allele change: Missense_R229W

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.