RGD:12902483 Rat Genome Database

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Variant: RGD:12902483 -  Homo sapiens

RGD ID: 12902483
RS ID: rs142855305
ClinVar ID: CV410732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 10,653,654
GRCh38 20 10,673,006
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.6041G>C
NC_000020.11:g.10673006C>G
NC_000020.10:g.10653654C>G
NP_000205.1:p.Val28Leu
More...
06/23/2020 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Alagille syndrome 1; JAG1-Related Alagille 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000731757 CLINVAR
  RCV001425112 CLINVAR
  RCV002431387 CLINVAR
dbSNP (RS) rs142855305 CLINVAR
MedGen C1956125 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  601920 CLINVAR