RGD:11549118 Rat Genome Database

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Variant: RGD:11549118 -  Homo sapiens

RGD ID: 11549118
RS ID: rs2035961
ClinVar ID: CV250061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,357,141
GRCh38 1 99,891,585
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.46502T>A
NC_000001.11:g.99891585T>A
NC_000001.10:g.100357141T>A
NM_000642.3:c.2950-21T>A
More...
07/14/2021 intron variant benign AllHighlyPenetrant; Amylo-1,6-glucosidase deficiency; Cori disease; Forbes disease; Glycogen debrancher deficiency; Glycogen storage disease type 3; Limit dextrinosis; none provided
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:NM_000643
Location:INTRON

Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000249993 CLINVAR
  RCV001549088 CLINVAR
  RCV001610584 CLINVAR
dbSNP (RS) rs2035961 CLINVAR
MedGen C0017922 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR