RGD:10409773 Rat Genome Database

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Variant: RGD:10409773 -  Homo sapiens

RGD ID: 10409773
RS ID: rs768385469
ClinVar ID: CV211814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 41,063,279
GRCh38 17 42,911,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_147:g.15465G>A
NG_011808.1:g.15465G>A
NC_000017.11:g.42911262G>A
NC_000017.10:g.41063279G>A
More... 		05/20/2022 3 prime utr variant uncertain significance 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_001270397
Location:3UTRS;EXON

Gene Symbol:G6PC1
Accession:NM_000151
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLILLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:34258141  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000196826 CLINVAR
  RCV001240860 CLINVAR
dbSNP (RS) rs768385469 CLINVAR
MedGen C2919796 CLINVAR
  CN517202 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR