Variant (rsID / SNP)

rs869312953

rs869312953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK1. Location: chromosome 1, position 65,312,418. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

JAK1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:65312418
Cytoband: 1p31.3
HGVS: NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)
Allele change: Missense_A634D

Associated conditions / phenotypes

Inborn genetic diseases|Lymphoblastic leukemia, acute, with lymphomatous features|Autoinflammation, immune dysregulation, and eosinophilia

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.