RGD:13816780 Rat Genome Database

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Variant: RGD:13816780 -  Homo sapiens

RGD ID: 13816780
RS ID: rs1566811995
ClinVar ID: CV566794
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DICER1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 95,596,529
GRCh38 14 95,130,192
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_492t1:c.439G>T
LRG_492:g.32231G>T
NG_016311.1:g.32231G>T
NC_000014.9:g.95130192C>A
More... 		05/16/2018 missense variant uncertain significance Cancer predisposition; DICER1 syndrome; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DICER1
Accession:NM_001395691
Location:5UTRS;INTRON

Gene Symbol:DICER1
Accession:NM_001395697
Location:5UTRS;INTRON

Gene Symbol:DICER1
Accession:NM_001395677
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395678
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395686
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395685
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001291628
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395693
Location:INTRON

Gene Symbol:DICER1
Accession:NM_030621
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395687
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395689
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395688
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395679
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395695
Location:INTRON

Gene Symbol:DICER1
Accession:NM_177438
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395680
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395694
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395698
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001195573
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395696
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395699
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395682
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395690
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395700
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395692
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001271282
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395684
Location:INTRON

Gene Symbol:DICER1
Accession:NM_001395683
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000692554 CLINVAR
  RCV002332435 CLINVAR
dbSNP (RS) rs1566811995 CLINVAR
MedGen C0027672 CLINVAR
  C3839822 CLINVAR
NCBI Gene DICER1 CLINVAR
OMIM 606241 CLINVAR
SNOMED CT 699346009 CLINVAR