RGD:12739829 Rat Genome Database

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Variant: RGD:12739829 -  Homo sapiens

RGD ID: 12739829
RS ID: rs1057516367
ClinVar ID: CV358438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 41,052,972
GRCh38 17 42,900,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_147:g.5158C>T
NG_011808.1:g.5158C>T
NC_000017.11:g.42900955C>T
NC_000017.10:g.41052972C>T
More... 		10/11/2021 nonsense pathogenic|likely pathogenic infancy 1-9 / 100 000 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_000151
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDS*DWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*

Gene Symbol:G6PC1
Accession:NM_001270397
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDS*DWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSP
VRHCCCRNFQPHPQHL*
Variant Samples
Additional References at PubMed
PMID:8182131   PMID:28397058   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410536 CLINVAR
dbSNP (RS) rs1057516367 CLINVAR
MedGen C2919796 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR