RGD:8598860 Rat Genome Database

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Variant: RGD:8598860 -  Homo sapiens

RGD ID: 8598860
RS ID: rs113993982
ClinVar ID: CV27031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PYGL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 51,378,873
GRCh38 14 50,912,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012796.1:g.37376G>A
NC_000014.9:g.50912155C>T
NC_000014.8:g.51378873C>T
NM_002863.3:c.1768+1G>A
More...
04/13/2018 splice donor variant|splice-5 pathogenic childhood Glycogen storage disease type 6; GSD VI; Hepatic glycogen phosphorylase deficiency; Hers disease; Phosphorylase deficiency glycogen-storage disease of liver
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PYGL
Accession:NM_001163940
Location:INTRON

Gene Symbol:PYGL
Accession:NM_002863
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9529348   PMID:20301760   PMID:25741868   PMID:28492532   PMID:32892177  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012772 CLINVAR
dbSNP (RS) rs113993982 CLINVAR
MedGen C0017925 CLINVAR
NCBI Gene PYGL CLINVAR
OMIM 232700 CLINVAR
  613741 CLINVAR
OMIM Allele 613741.0001 CLINVAR
SNOMED CT 29291001 CLINVAR