RGD:150520604 Rat Genome Database

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Variant: RGD:150520604 -  Homo sapiens

RGD ID: 150520604
RS ID: rs2139622959
ClinVar ID: CV1290496
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZEB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 31,803,530
GRCh38 10 31,514,602
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001323647.2:c.31-1G>A
NM_001323648.2:c.31-1G>A
NM_001323659.2:c.31-1G>A
NM_001323673.2:c.31-1G>A
More... 		10/01/2021 splice acceptor variant likely pathogenic Corneal endothelial dystrophy 1, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZEB1
Accession:NM_030751
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323638
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323649
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323660
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323663
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323662
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323672
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323650
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323674
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323657
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323675
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001174093
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323651
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323665
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323678
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425686
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001128128
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001174096
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323659
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425695
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425688
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425696
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425692
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323646
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323658
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425690
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323654
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323642
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323661
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001174095
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323664
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425683
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323656
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425694
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001174094
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425687
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323641
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323648
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323677
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425691
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425685
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323643
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323644
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425693
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323655
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323666
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323673
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323645
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323647
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323676
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425682
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323653
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323652
Location:INTRON

Gene Symbol:ZEB1
Accession:NM_001323671
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425684
Location:INTRON

Gene Symbol:ZEB1
Accession:XM_047425689
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002272489 CLINVAR
dbSNP (RS) rs2139622959 CLINVAR
MedGen C1852555 CLINVAR
NCBI Gene ZEB1 CLINVAR
OMIM 122000 CLINVAR
  189909 CLINVAR