RGD:13783142 Rat Genome Database

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Variant: RGD:13783142 -  Homo sapiens

RGD ID: 13783142
RS ID: rs751112302
ClinVar ID: CV541373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 100,340,367
GRCh38 1 99,874,811
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.1034+1G>C
NM_000028.2:c.1082+1G>C
NM_000642.3:c.1082+1G>C
NG_012865.1:g.29728G>C
More... 		09/28/2017 splice donor variant 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_000643
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000669745 CLINVAR
dbSNP (RS) rs751112302 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR