RGD:13466109 Rat Genome Database

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Variant: RGD:13466109 -  Homo sapiens

RGD ID: 13466109
RS ID: rs1555828541
ClinVar ID: CV470295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 10,628,605
GRCh38 20 10,647,957
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.31090A>G
NC_000020.11:g.10647957T>C
NC_000020.10:g.10628605T>C
NM_000214.2:c.1720+3A>G
More... 		05/05/2017 intron variant uncertain significance Alagille syndrome 1; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC; JAG1-Related Alagille Syndrome
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000549786 CLINVAR
dbSNP (RS) rs1555828541 CLINVAR
MedGen C1956125 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  601920 CLINVAR