rs201774098
This variant is located in the DNMT1 gene.
▶ClinVar annotation
not provided; Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn genetic diseases
View on ClinVar →About DNMT1
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]
View all DNMT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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