RGD:13613378 Rat Genome Database

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Variant: RGD:13613378 -  Homo sapiens

RGD ID: 13613378
RS ID: rs1553186489
ClinVar ID: CV516148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,346,738
GRCh38 1 99,881,182
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000646.2:c.1953+5G>A
NM_000642.3:c.2001+5G>A
NM_000643.2:c.2001+5G>A
NM_000644.2:c.2001+5G>A
More... 		01/10/2020 intron 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_000646
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000642
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:26984562   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631129 CLINVAR
dbSNP (RS) rs1553186489 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR