RGD:11607005 Rat Genome Database

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Variant: RGD:11607005 -  Homo sapiens

RGD ID: 11607005
ClinVar ID: CV318934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAK2  LOC130001497  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 4,985,542
GRCh38 9 4,985,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_612t1:c.-197T>C
NM_004972.3:c.-197T>C
NM_001322195.1:c.-26+369T>C
LRG_612:g.5298T>C
More... 		06/14/2016 5 prime utr variant benign all ages 1-9 / 100 000
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:JAK2
Accession:NM_001322196
Location:5UTRS;EXON

Gene Symbol:JAK2
Accession:NM_001322199
Location:5UTRS;EXON

Gene Symbol:JAK2
Accession:NM_001322198
Location:5UTRS;EXON

Gene Symbol:JAK2
Accession:NM_004972
Location:5UTRS;EXON

Gene Symbol:JAK2
Accession:NM_001322194
Location:5UTRS;EXON

Gene Symbol:JAK2
Accession:NM_001322195
Location:5UTRS;INTRON

Gene Symbol:JAK2
Accession:NM_001322204
Location:INTRON

Gene Symbol:JAK2
Accession:NR_169764
Location:INTRON;NON-CODING

Gene Symbol:JAK2
Accession:NR_169763
Location:INTRON;NON-CODING

Variant Samples