Variant (rsID / SNP)

rs150682895

rs150682895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,383,238. Clinical significance in the table: Benign.

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Reference-table entries

DNMT3BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:31383238
Cytoband: 20q11.21
HGVS: NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)
Allele change: Missense_A384T

Associated conditions / phenotypes

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

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.