Variant (rsID / SNP)

rs267607040

rs267607040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,913. Clinical significance in the table: Pathogenic.

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Reference-table entries

SETBP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:42531913
Cytoband: 18q12.3
HGVS: NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
Allele change: Missense_G870S

Associated conditions / phenotypes

Schinzel-Giedion syndrome|Chronic myelogenous leukemia, BCR-ABL1 positive

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.