RGD:10409772 Rat Genome Database

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Variant: RGD:10409772 -  Homo sapiens

RGD ID: 10409772
RS ID: rs2273060
ClinVar ID: CV210341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 10,639,385
GRCh38 20 10,658,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000214.3:c.440-15T>C
NG_007496.1:g.20310T>C
NC_000020.11:g.10658737A>G
NC_000020.10:g.10639385A>G
More... 		08/19/2021 intron variant pathogenic|benign Alagille syndrome 1; AllHighlyPenetrant; Fallot tetralogy; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC; JAG1-Related Alagille Syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000196823 CLINVAR
  RCV000362940 CLINVAR
  RCV001520997 CLINVAR
  RCV001730583 CLINVAR
  RCV001730584 CLINVAR
dbSNP (RS) rs2273060 CLINVAR
MedGen C0039685 CLINVAR
  C1866053 CLINVAR
  C1956125 CLINVAR
  CN169374 CLINVAR
  CN239319 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  187500 CLINVAR
  601920 CLINVAR
  617992 CLINVAR
SNOMED CT 86299006 CLINVAR