RGD:402486573 Rat Genome Database

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Variant: RGD:402486573 -  Homo sapiens

RGD ID: 402486573
ClinVar ID: CV2917172
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 100,346,734
GRCh38 1 99,881,178
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+1G>T
NM_000028.2:c.2001+1G>T
NM_000642.3:c.2001+1G>T
NM_000643.2:c.2001+1G>T
More... 		08/29/2023 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_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:16199547   PMID:19299494   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003517004 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR