RGD:28870079 Rat Genome Database

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Variant: RGD:28870079 -  Homo sapiens

RGD ID: 28870079
RS ID: rs11569151
ClinVar ID: CV889929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 110,934,046
GRCh38 4 110,012,890
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178130.3:c.*1435T>C
NC_000004.12:g.110012890T>C
NC_000004.11:g.110934046T>C
NM_001963.4:c.*1435T>C
More... 		04/27/2017 3 prime utr variant benign HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGF
Accession:NM_001963
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGF
Accession:NM_001178130
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGF
Accession:NM_001357021
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGF
Accession:NM_001178131
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001145206 CLINVAR
dbSNP (RS) rs11569151 CLINVAR
MedGen C2673648 CLINVAR
NCBI Gene EGF CLINVAR
OMIM 131530 CLINVAR
  611718 CLINVAR