Variant (rsID / SNP)
rs121908941
rs121908941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3B. Location: chromosome 20, position 31,390,222. Clinical significance in the table: Pathogenic.
Reference-table entries
DNMT3BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:31390222
- Cytoband
- 20q11.21
- HGVS
- NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)
- Allele change
- Missense_V726G
Associated conditions / phenotypes
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.