rs202105587 Rat Genome Database

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Variant: rs202105587 -  Homo sapiens

RGD ID: 15139445
RS ID: rs202105587
ClinVar ID: CV695064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,340,820
GRCh38 1 99,875,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000642.3:c.1185+8T>A
NG_012865.1:g.30181T>A
NC_000001.11:g.99875264T>A
NC_000001.10:g.100340820T>A
More... 		01/30/2024 intron variant likely benign 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_001425327
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:NM_001425332
Location:INTRON

Gene Symbol:AGL
Accession:NM_001425325
Location:INTRON

Gene Symbol:AGL
Accession:NM_001425328
Location:INTRON

Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_001425329
Location:INTRON

Gene Symbol:AGL
Accession:NM_000642
Location:INTRON

Gene Symbol:AGL
Accession:NM_001425326
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877318 CLINVAR
dbSNP (RS) rs202105587 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR