RGD:13516491 Rat Genome Database

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Variant: RGD:13516491 -  Homo sapiens

RGD ID: 13516491
RS ID: rs142917638
ClinVar ID: CV493558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 41,055,975
GRCh38 17 42,903,958
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_147:g.8161G>A
NC_000017.11:g.42903958G>A
NG_011808.1:g.8161G>A
NP_000142.2:p.Trp86Ter
More...
05/28/2017 nonsense pathogenic|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; 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: W to * (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPY*WVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*

Gene Symbol:G6PC1
Accession:NM_001270397
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPY*WVLDTDYYSNTSVPLIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSP
VRHCCCRNFQPHPQHL*

Variant Samples
Additional References at PubMed
PMID:8182131   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000595590 CLINVAR
  RCV000984266 CLINVAR
dbSNP (RS) rs142917638 CLINVAR
MedGen C2919796 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR