RGD:28897014 Rat Genome Database

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Variant: RGD:28897014 -  Homo sapiens

RGD ID: 28897014
RS ID: rs1247253899
ClinVar ID: CV864934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  LOC124904230  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 100,389,024
GRCh38 1 99,923,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012865.1:g.78385G>A
NC_000001.11:g.99923468G>A
NC_000001.10:g.100389024G>A
NM_000642.2:c.*1817G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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_000644
Location:3UTRS;EXON

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

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

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

Gene Symbol:AGL
Accession:NM_000642
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:LOC124904230
Accession:XR_007066249
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_007066246
Location:INTRON;NON-CODING

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102437 CLINVAR
dbSNP (RS) rs1247253899 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR