RGD:11626597 Rat Genome Database

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Variant: RGD:11626597 -  Homo sapiens

RGD ID: 11626597
RS ID: rs562655817
ClinVar ID: CV344690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 10,619,748
GRCh38 20 10,639,100
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1191:g.39947T>C
NG_007496.1:g.39947T>C
NC_000020.11:g.10639100A>G
NC_000020.10:g.10619748A>G
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JAG1
Accession:NM_000214
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000361979 CLINVAR
dbSNP (RS) rs562655817 CLINVAR
MedGen CN239319 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 601920 CLINVAR