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Variant (rsID / SNP)

rs62621089

DNMT1

rs62621089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,286,289. 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
19:10286289
Cytoband
19p13.2
HGVS
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
Allele change
Missense_A176V

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.