Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509391
rs397509391
DNMT1
0.820 GeneticVariation BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802

2019
dbSNP: rs397509391
rs397509391
DNMT1
0.820 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086

2012
dbSNP: rs397509391
rs397509391
DNMT1
0.820 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086

2012
dbSNP: rs397509391
rs397509391
DNMT1
A 0.820 CausalMutation CLINVAR

dbSNP: rs397509393
rs397509393
DNMT1
0.810 GeneticVariation BEFREE Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). 31804802

2019
dbSNP: rs397509392
rs397509392
DNMT1
0.810 GeneticVariation UNIPROT Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086

2012
dbSNP: rs397509392
rs397509392
DNMT1
0.810 GeneticVariation BEFREE Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. 22328086

2012
dbSNP: rs397509393
rs397509393
DNMT1
0.810 GeneticVariation UNIPROT Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. 22328086

2012
dbSNP: rs397509392
rs397509392
DNMT1
A 0.810 CausalMutation CLINVAR

dbSNP: rs397509393
rs397509393
DNMT1
G 0.810 CausalMutation CLINVAR