RGD:26889091 Rat Genome Database

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Variant: RGD:26889091 -  Homo sapiens

RGD ID: 26889091
RS ID: rs2056023296
ClinVar ID: CV845352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 41,053,121
GRCh38 17 42,901,104
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.41053121G>C
NM_000151.4:c.228G>C
NM_001270397.2:c.228G>C
LRG_147:g.5307G>C
More... 		03/07/2019 missense variant pathogenic 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; none provided; Von Gierke disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PC1
Accession:NM_000151
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFNWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*

Gene Symbol:G6PC1
Accession:NM_001270397
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFNWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSP
VRHCCCRNFQPHPQHL*
Variant Samples
Additional References at PubMed
PMID:10874313   PMID:11739393   PMID:16435186   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001060511 CLINVAR
  RCV001268621 CLINVAR
dbSNP (RS) rs2056023296 CLINVAR
MedGen C2919796 CLINVAR
  C3661900 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR