RGD:26902580 Rat Genome Database

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Variant: RGD:26902580 -  Homo sapiens

RGD ID: 26902580
RS ID: rs766448695
ClinVar ID: CV857623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 41,063,420
GRCh38 17 42,911,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001270397.2:c.*443C>T
NM_000151.4:c.1051C>T
LRG_147:g.15606C>T
NG_011808.1:g.15606C>T
More...
3 prime utr variant likely 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; 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:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLG*PHKKSL*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:32313153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001089502 CLINVAR
dbSNP (RS) rs766448695 CLINVAR
MedGen C2919796 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR