Genomic variant #0000547613

Individual ID 00000001
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.10164983C>T
Reference -
DB-ID DNMT1_000002
dbSNP ID rs8101866
Frequency 0.4559
Homozygous 81
Heterozygote 147
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNMT1 NM_001379.2 ./. - c.843+1615G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin