RGD:13537960 Rat Genome Database

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Variant: RGD:13537960 -  Homo sapiens

RGD ID: 13537960
RS ID: rs375459662
ClinVar ID: CV498632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 100,327,272
GRCh38 1 99,861,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000028.2:c.293+3A>G
NM_000642.3:c.293+3A>G
NM_000644.2:c.293+3A>G
NM_000642.2:c.293+3A>G
More... 		07/15/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611136 CLINVAR
  RCV000686891 CLINVAR
dbSNP (RS) rs375459662 CLINVAR
MedGen C0017922 CLINVAR
  CN169374 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR