RGD:15131777 Rat Genome Database

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Variant: RGD:15131777 -  Homo sapiens

RGD ID: 15131777
RS ID: rs1601096135
ClinVar ID: CV760867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 31,376,656
GRCh38 20 32,788,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175850.3:c.691-4C>T
NM_001207056.2:c.427-4C>T
NM_006892.3:c.655-4C>T
NM_175849.2:c.655-4C>T
More... 		01/30/2018 intron variant likely benign Centromeric instability, immunodeficiency syndrome; ICF syndrome; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Immunodeficiency syndrome, variable; Immunodeficiency-centromeric instability-facial anomalies
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:DNMT3B
Accession:NM_001424352
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424360
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439959
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424358
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175849
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424353
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439949
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424355
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424354
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001207056
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439950
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001207055
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175850
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439960
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424359
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175848
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439955
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439956
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424357
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424356
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_006892
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439946
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424351
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000920225 CLINVAR
dbSNP (RS) rs1601096135 CLINVAR
MedGen C0398788 CLINVAR
NCBI Gene DNMT3B CLINVAR
OMIM 242860 CLINVAR
  602900 CLINVAR
SNOMED CT 234633000 CLINVAR