RGD:15145748 Rat Genome Database

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Variant: RGD:15145748 -  Homo sapiens

RGD ID: 15145748
RS ID: rs1595179544
ClinVar ID: CV775994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 105,618,080
GRCh38 14 105,151,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002226.5:c.1040-4A>G
NM_145159.3:c.1040-4A>G
NC_000014.9:g.105151743T>C
NC_000014.8:g.105618080T>C
More... 		07/19/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:JAG2
Accession:NM_145159
Location:INTRON

Gene Symbol:JAG2
Accession:XM_047431352
Location:INTRON

Gene Symbol:JAG2
Accession:NM_002226
Location:INTRON

Gene Symbol:JAG2
Accession:XM_047431353
Location:INTRON

Gene Symbol:JAG2
Accession:XM_047431354
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000944635 CLINVAR
dbSNP (RS) rs1595179544 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene JAG2 CLINVAR
OMIM 602570 CLINVAR