Variant (rsID / SNP)
rs151128145
rs151128145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,368,202. Clinical significance in the table: Uncertain significance.
Reference-table entries
DNMT3BUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:31368202
- Cytoband
- 20q11.21
- HGVS
- NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg)
- Allele change
- Missense_G25R
Associated conditions / phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 1|Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
