RGD:28907546 Rat Genome Database

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Variant: RGD:28907546 -  Homo sapiens

RGD ID: 28907546
RS ID: rs928051436
ClinVar ID: CV859152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 25,467,023
GRCh38 2 25,244,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_459t2:c.1284+1G>C
LRG_459t4:c.1851+1G>C
NM_001375819.1:c.1182+1G>C
NM_153759.3:c.1284+1G>C
More... 		10/01/2019 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DNMT3A
Accession:XM_011532666
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532664
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_017003527
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001375819
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_022552
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532662
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532667
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320893
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443592
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443593
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_175630
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_017003526
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443594
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443596
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443599
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_175629
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_153759
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_005264175
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320892
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443598
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443597
Location:INTRON

Gene Symbol:DNMT3A
Accession:NR_135490
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001093355 CLINVAR
dbSNP (RS) rs928051436 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNMT3A CLINVAR
OMIM 602769 CLINVAR