Variant (rsID / SNP)

rs147001633

rs147001633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3A. Location: chromosome 2, position 25,457,242. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNMT3APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:25457242
Cytoband: 2p23.3
HGVS: NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)
Allele change: Missense_R693H

Associated conditions / phenotypes

Acute myeloid leukemia

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.