RGD:405247605 Rat Genome Database

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Variant: RGD:405247605 -  Homo sapiens

RGD ID: 405247605
ClinVar ID: CV3044650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 25,497,971
GRCh38 2 25,275,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_459t4:c.493-15G>A
NM_022552.5:c.493-15G>A
NM_175629.2:c.493-15G>A
LRG_459:g.72489G>A
More... 		03/09/2023 intron variant likely benign Tall stature-intellectual disability-facial dysmorphism syndrome; Tatton-Brown-rahman syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:DNMT3A
Accession:XM_017003527
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_175630
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532667
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443596
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_153759
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443592
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532662
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_022552
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443598
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_005264175
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_017003526
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001375819
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320892
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443593
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_175629
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443594
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320893
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443597
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532664
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443599
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003746436 CLINVAR
MedGen C4014545 CLINVAR
NCBI Gene DNMT3A CLINVAR
OMIM 602769 CLINVAR
  615879 CLINVAR