RGD:13537094 Rat Genome Database

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Variant: RGD:13537094 -  Homo sapiens

RGD ID: 13537094
RS ID: rs2275182
ClinVar ID: CV505595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DICER1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 95,581,899
GRCh38 14 95,115,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_492t1:c.1907+105C>T
LRG_492:g.46861C>T
NG_016311.1:g.46861C>T
NC_000014.9:g.95115562G>A
More... 		07/01/2019 intron variant benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; DICER1 syndrome; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DICER1
Accession:NM_001395678
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395687
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395682
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001291628
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395690
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395683
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395679
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395694
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395695
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395692
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395685
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395688
Location:INTRON

Gene Symbol:DICER1
Accession:NM_030621
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001271282
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395691
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395696
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395699
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395686
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395680
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001195573
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395689
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395698
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395697
Location:INTRON

Gene Symbol:DICER1
Accession:NM_177438
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395693
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395700
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395677
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395684
Location:INTRON

Gene Symbol:DICER1
Accession:NR_172716
Location:INTRON;NON-CODING

Gene Symbol:DICER1
Accession:NR_172719
Location:INTRON;NON-CODING

Gene Symbol:DICER1
Accession:NR_172720
Location:INTRON;NON-CODING

Gene Symbol:DICER1
Accession:NR_172717
Location:INTRON;NON-CODING

Gene Symbol:DICER1
Accession:NR_172718
Location:INTRON;NON-CODING

Gene Symbol:DICER1
Accession:NR_172715
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25526195   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609917 CLINVAR
  RCV000860767 CLINVAR
  RCV000989256 CLINVAR
dbSNP (RS) rs2275182 CLINVAR
MedGen C3661900 CLINVAR
  C3839822 CLINVAR
  CN169374 CLINVAR
NCBI Gene DICER1 CLINVAR
OMIM 606241 CLINVAR