RGD:13807970 Rat Genome Database

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Variant: RGD:13807970 -  Homo sapiens

RGD ID: 13807970
RS ID: rs1566790572
ClinVar ID: CV573081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DICER1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 95,583,033
GRCh38 14 95,116,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_177438.2:c.1510-1G>A
LRG_492t1:c.1510-1G>A
LRG_492:g.45727G>A
NG_016311.1:g.45727G>A
More... 		08/31/2021 intron variant|splice acceptor variant likely pathogenic DICER1 syndrome; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DICER1
Accession:NM_001395697
Location:5UTRS;INTRON

Gene Symbol:DICER1
Accession:NM_001395678
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395689
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395690
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395687
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395691
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395693
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001291628
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001271282
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395684
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395682
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395694
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001195573
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395686
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395683
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395679
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395696
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395692
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395698
Location:INTRON

Gene Symbol:DICER1
Accession:NM_177438
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395677
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395680
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395695
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395700
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395699
Location:INTRON

Gene Symbol:DICER1
Accession:NM_030621
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395685
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395688
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19556464   PMID:21266384   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000687054 CLINVAR
dbSNP (RS) rs1566790572 CLINVAR
MedGen C3839822 CLINVAR
NCBI Gene DICER1 CLINVAR
OMIM 606241 CLINVAR