Variant (rsID / SNP)

rs2228611

rs2228611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,267,077. Clinical significance in the table: Benign.

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Reference-table entries

DNMT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:10267077
Cytoband: 19p13.2
HGVS: NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)
Allele change: Synonymous_P447P

Associated conditions / phenotypes

Hereditary sensory neuropathy-deafness-dementia syndrome|Autosomal dominant cerebellar ataxia, deafness and narcolepsy

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.