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Variant (rsID / SNP)

rs121908940

DNMT3B

rs121908940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,395,599. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNMT3BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:31395599
Cytoband
20q11.21
HGVS
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)
Allele change
Missense_V818M

Associated conditions / phenotypes

Immunodeficiency-centromeric instability-facial anomalies syndrome 1|Non-obstructive azoospermia

Public references

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