Variant (rsID / SNP)
rs769623856
rs769623856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,252,904. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNMT1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:10252904
- Cytoband
- 19p13.2
- HGVS
- NM_001130823.3(DNMT1):c.3117-8G>A
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary sensory neuropathy-deafness-dementia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
