RGD:11657152 Rat Genome Database

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Variant: RGD:11657152 -  Homo sapiens

RGD ID: 11657152
RS ID: rs886044933
ClinVar ID: CV281436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  LOC124904230  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 100,388,898
GRCh38 1 99,923,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012865.1:g.78259A>G
NC_000001.11:g.99923342A>G
NC_000001.10:g.100388898A>G
NM_000642.2:c.*1691A>G
More... 		10/04/2021 3 prime utr variant uncertain significance childhood 1-9 / 100 000 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:3UTRS;EXON

Gene Symbol:AGL
Accession:XM_005270557
Location:3UTRS;EXON

Gene Symbol:AGL
Accession:NM_000646
Location:3UTRS;EXON

Gene Symbol:AGL
Accession:NM_000028
Location:3UTRS;EXON

Gene Symbol:AGL
Accession:NM_000643
Location:3UTRS;EXON

Gene Symbol:AGL
Accession:NM_000644
Location:3UTRS;EXON

Gene Symbol:AGL
Accession:XM_017000501
Location:3UTRS;EXON

Gene Symbol:LOC124904230
Accession:XR_007066250
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066246
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066245
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066244
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066247
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066243
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066251
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066248
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066249
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000339219 CLINVAR
dbSNP (RS) rs886044933 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR