RGD:12839090 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:12839090 -  Homo sapiens

RGD ID: 12839090
RS ID: rs375666082
ClinVar ID: CV379154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 10,305,620
GRCh38 19 10,194,944
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_362:g.41343C>T
NG_028016.3:g.41343C>T
NC_000019.10:g.10194944G>A
NC_000019.9:g.10305620G>A
More...
12/02/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DNMT1
Accession:NM_001318730
Location:5UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001318731
Location:5UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001379
Location:5UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001130823
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000428178 CLINVAR
dbSNP (RS) rs375666082 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DNMT1 CLINVAR
OMIM 126375 CLINVAR