rs1654701324 Rat Genome Database

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Variant: rs1654701324 -  Homo sapiens

RGD ID: 40889302
RS ID: rs1654701324
ClinVar ID: CV971705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 100,376,402
GRCh38 1 99,910,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000019.2:p.Arg1279Ter
NG_012865.1:g.65763A>T
NC_000001.11:g.99910846A>T
NC_000001.10:g.100376402A>T
More... 		12/27/2019 nonsense 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_001425325
Location:EXON

Gene Symbol:AGL
Accession:XM_005270557
Location:EXON

Gene Symbol:AGL
Accession:NM_000643
Location:EXON

Gene Symbol:AGL
Accession:NM_000646
Location:EXON

Gene Symbol:AGL
Accession:NM_001425328
Location:EXON

Gene Symbol:AGL
Accession:NM_001425327
Location:EXON

Gene Symbol:AGL
Accession:NM_000644
Location:EXON

Gene Symbol:AGL
Accession:NM_000642
Location:EXON

Gene Symbol:AGL
Accession:XM_017000501
Location:EXON

Gene Symbol:AGL
Accession:NM_001425332
Location:EXON

Gene Symbol:AGL
Accession:NM_001425329
Location:EXON

Gene Symbol:AGL
Accession:NM_001425326
Location:EXON

Gene Symbol:AGL
Accession:NM_000028
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001264293 CLINVAR
dbSNP (RS) rs1654701324 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR