Variant (rsID / SNP)

rs753248212

rs753248212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,246,899. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNMT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:10246899
Cytoband: 19p13.2
HGVS: NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)
Allele change: Synonymous_H1502H

Associated conditions / phenotypes

Hereditary sensory neuropathy-deafness-dementia syndrome

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.