RGD:38471939 Rat Genome Database

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Variant: RGD:38471939 -  Homo sapiens

RGD ID: 38471939
RS ID: rs1650347038
ClinVar ID: CV939834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 100,330,147
GRCh38 1 99,864,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000644.2:c.664+2T>C
NG_012865.1:g.19508T>C
NC_000001.11:g.99864591T>C
NC_000001.10:g.100330147T>C
More... 		06/27/2019 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_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
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_000642
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19299494   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001202978 CLINVAR
dbSNP (RS) rs1650347038 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR