RGD:13788798 Rat Genome Database

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Variant: RGD:13788798 -  Homo sapiens

RGD ID: 13788798
RS ID: rs1289339080
ClinVar ID: CV541422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,368,238
GRCh38 1 99,902,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012865.1:g.57599G>A
NC_000001.11:g.99902682G>A
NC_000001.10:g.100368238G>A
NM_000646.2:c.3541-1G>A
More... 		03/03/2020 splice acceptor variant pathogenic|likely pathogenic Amylo-1,6-glucosidase deficiency; Cori disease; Forbes disease; Glycogen debrancher deficiency; Glycogen storage disease type 3; Limit dextrinosis
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_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665591 CLINVAR
dbSNP (RS) rs1289339080 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR