Variant (rsID / SNP)

rs199473692

rs199473692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,265,694. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNMT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:10265694
Cytoband: 19p13.2
HGVS: NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His)
Allele change: Missense_Y495H

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.