RGD:8598865 Rat Genome Database

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Variant: RGD:8598865 -  Homo sapiens

RGD ID: 8598865
RS ID: rs1801175
ClinVar ID: CV27037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 41,055,964
GRCh38 17 42,903,947
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.8150C>T
NG_011808.1:g.8150C>T
NC_000017.11:g.42903947C>T
NC_000017.10:g.41055964C>T
More... 		03/17/2024 missense|missense variant pathogenic neonatal/infancy 1-9 / 100 000 AllHighlyPenetrant; Disorder of glycogen metabolism; Glucose-6-phosphatase deficiency; Glucose-6-phosphatase deficiency glycogen storage disease; Glycogen storage disease type 1A; glycogen storage disorder; Glycogenosis type 1; GSD Ia; Hepatorenal form of glycogen storage disease; Hepatorenal glycogenosis; Hypoglycemia; none provided; Von Gierke disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hypoglycemia  (IAGP)
Short stature  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:G6PC1
Accession:NM_001270397
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQCPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSP
VRHCCCRNFQPHPQHL*

Gene Symbol:G6PC1
Accession:NM_000151
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQCPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*
Variant Samples
Additional References at PubMed
PMID:2172641   PMID:7573034   PMID:7623438   PMID:7744838   PMID:7814621   PMID:8182131   PMID:8211187   PMID:8734807   PMID:9332655   PMID:10612834   PMID:10834516   PMID:10874313  
PMID:11310582   PMID:11739393   PMID:12093795   PMID:12373566   PMID:12713862   PMID:15316959   PMID:18008183   PMID:18449899   PMID:20301489   PMID:21599942   PMID:23312056   PMID:24033266  
PMID:24082139   PMID:24385852   PMID:25308557   PMID:25333069   PMID:25741868   PMID:25741914   PMID:28397058   PMID:28492532   PMID:29750741   PMID:32313153   PMID:33224545   PMID:33763395  
PMID:34093448  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012778 CLINVAR
  RCV000360229 CLINVAR
  RCV000424594 CLINVAR
  RCV000626623 CLINVAR
  RCV002512991 CLINVAR
  RCV003987317 CLINVAR
dbSNP (RS) rs1801175 CLINVAR
MedGen C0017919 CLINVAR
  C0349588 CLINVAR
  C0950123 CLINVAR
  C2919796 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR
OMIM Allele 613742.0002 CLINVAR
SNOMED CT 29633007 CLINVAR