Variant (rsID / SNP)

rs121908946

rs121908946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,395,666. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNMT3BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:31395666
Cytoband: 20q11.21
HGVS: NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)
Allele change: Missense_R840Q

Associated conditions / phenotypes

Immunodeficiency-centromeric instability-facial anomalies syndrome 1

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.