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Variant (rsID / SNP)

rs146112081

DNMT1

rs146112081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT1. Location: chromosome 19, position 10,291,529. 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
19:10291529
Cytoband
19p13.2
HGVS
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
Allele change
Synonymous_H50H

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.