DNMT1 Chromosome 19
DNA methyltransferase 1
Upload your DNA to see your personal genotypes for variants in DNMT1.
What This Gene Does
This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Zinc fingers CXXC-type|7BS C5-cytosine DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130816
Associated Conditions (14)
Hereditary sensory neuropathy-deafness-dementia syndrome
Inborn genetic diseases
Autosomal dominant cerebellar ataxia
deafness and narcolepsy
Beckwith-Wiedemann syndrome
DNMT1-related disorder
Charcot-Marie-Tooth disease
Ovarian serous cystadenocarcinoma
Spastic ataxia
Limb-girdle muscular dystrophy
Melanoma
Hepatocellular carcinoma
Glioma susceptibility 1
Pituitary stalk interruption syndrome
Key Variants
RS1020363356
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS1085307800
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS1168540279
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS1186008456
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Health Risk
RS1223065154
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS1308964182
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS1316294712
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS138841970
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Beckwith-Wiedemann syndrome, Inborn genetic diseases
Health Risk
RS140852137
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS141791913
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS141856197
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
Health Risk
RS142562681
Conflicting classifications of pathogenicity
Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Autosomal dominant cerebellar ataxia
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1020363356 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1085307800 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1168540279 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1186008456 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
| RS1223065154 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1308964182 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1316294712 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS138841970 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Beckwith-Wiedemann syndrome, Inborn genetic diseases |
| RS140852137 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS141791913 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS141856197 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS142562681 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Autosomal dominant cerebellar ataxia |
| RS143598088 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS144533539 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS144685297 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS146112081 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS146467216 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS146601335 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS147118268 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS147984942 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS148038464 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, DNMT1-related disorder |
| RS1484101604 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS148831705 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, DNMT1-related disorder, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS148987580 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS150359172 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, DNMT1-related disorder, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS150863675 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1599341718 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant cerebellar ataxia, deafness and narcolepsy, Autosomal dominant cerebellar ataxia |
| RS1599346495 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1599366076 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Charcot-Marie-Tooth disease, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS1599366542 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS187394074 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Autosomal dominant cerebellar ataxia |
| RS192952800 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS199506146 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS199832007 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS200024502 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS201025441 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Ovarian serous cystadenocarcinoma |
| RS201319352 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS201487376 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS201749864 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS201774098 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS201945078 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS2038736631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS2089593597 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia, Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
| RS2145283472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS369196079 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS370070174 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS370592431 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS371779379 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome |
| RS372240993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Limb-girdle muscular dystrophy |
| RS373923585 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome |