RGD:14700511 Rat Genome Database

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Variant: RGD:14700511 -  Homo sapiens

RGD ID: 14700511
RS ID: rs770438130
ClinVar ID: CV623174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 100,357,160
GRCh38 1 99,891,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000642.3:c.2950-2A>G
NG_012865.1:g.46521A>G
NC_000001.11:g.99891604A>G
NC_000001.10:g.100357160A>G
More... 		05/15/2019 splice acceptor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGL
Accession:NM_000642
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31319225  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000790366 CLINVAR
dbSNP (RS) rs770438130 CLINVAR
MedGen C1968739 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 610860 CLINVAR