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Variant (rsID / SNP)

rs35846833

DNMT3B

rs35846833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,383,232. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNMT3BUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
20:31383232
Cytoband
20q11.21
HGVS
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys)
Allele change
Missense_R382C

Associated conditions / phenotypes

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency|Immunodeficiency-centromeric instability-facial anomalies syndrome 1|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.