RGD:11616580 Rat Genome Database

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Variant: RGD:11616580 -  Homo sapiens

RGD ID: 11616580
RS ID: rs139115520
ClinVar ID: CV328603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 41,066,290
GRCh38 17 42,914,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_147:g.18476T>C
NG_011808.1:g.18476T>C
NC_000017.11:g.42914273T>C
NC_000017.10:g.41066290T>C
More... 		01/12/2018 3 prime utr variant uncertain significance Glucose-6-phosphatase deficiency; Glucose-6-phosphatase deficiency glycogen storage disease; Glycogen storage disease type 1A; Glycogenosis type 1; GSD Ia; Hepatorenal form of glycogen storage disease; Hepatorenal glycogenosis; Von Gierke disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PC1
Accession:NM_001270397
Location:3UTRS;EXON

Gene Symbol:G6PC1
Accession:NM_000151
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296117 CLINVAR
dbSNP (RS) rs139115520 CLINVAR
MedGen C2919796 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR