RGD:10411304 Rat Genome Database

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Variant: RGD:10411304 -  Homo sapiens

RGD ID: 10411304
RS ID: rs863223648
ClinVar ID: CV210342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 10,644,610
GRCh38 20 10,663,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007496.1:g.15085G>A
NC_000020.11:g.10663962C>T
NC_000020.10:g.10644610C>T
NM_000214.3:c.439+1G>A
More...
02/26/2018 splice donor variant pathogenic|likely pathogenic Alagille syndrome 1; JAG1-Related Alagille Syndrome; Midaortic syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JAG1
Accession:NM_000214
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11139247   PMID:11180599   PMID:16199547   PMID:24748328   PMID:25741868   PMID:28492532   PMID:29483232   PMID:31343788  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199991 CLINVAR
  RCV000845195 CLINVAR
  RCV001853157 CLINVAR
  RCV003417708 CLINVAR
dbSNP (RS) rs863223648 CLINVAR
MedGen C1956125 CLINVAR
  C3496579 CLINVAR
  C3661900 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  601920 CLINVAR