RGD:15158006 Rat Genome Database

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Variant: RGD:15158006 -  Homo sapiens

RGD ID: 15158006
RS ID: rs374522795
ClinVar ID: CV727194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 41,062,984
GRCh38 17 42,910,967
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.*7C>T
NM_000151.4:c.615C>T
NG_011808.1:g.15170C>T
NC_000017.11:g.42910967C>T
More... 		12/31/2019 3 prime utr variant benign 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: S to S (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880926 CLINVAR
dbSNP (RS) rs374522795 CLINVAR
MedGen C2919796 CLINVAR
NCBI Gene G6PC CLINVAR
OMIM 232200 CLINVAR
  613742 CLINVAR