RGD:11586621 Rat Genome Database

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Variant: RGD:11586621 -  Homo sapiens

RGD ID: 11586621
RS ID: rs148355596
ClinVar ID: CV293432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 110,885,699
GRCh38 4 109,964,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.109964543G>A
NC_000004.11:g.110885699G>A
NM_001963.4:c.1575+6G>A
NM_001178130.3:c.1575+6G>A
More... 		06/14/2016 intron variant uncertain significance HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EGF
Accession:NM_001178131
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EGF
Accession:NM_001357021
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EGF
Accession:NM_001963
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EGF
Accession:NM_001178130
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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 RCV000289393 CLINVAR
dbSNP (RS) rs148355596 CLINVAR
MedGen C2673648 CLINVAR
NCBI Gene EGF CLINVAR
OMIM 131530 CLINVAR
  611718 CLINVAR