RGD:152025776 Rat Genome Database

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Variant: RGD:152025776 -  Homo sapiens

RGD ID: 152025776
RS ID: rs2107924455
ClinVar ID: CV1527983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GYG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 148,744,305
GRCh38 3 149,026,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184721.2:c.609-242A>G
NM_001184720.2:c.829-242A>G
NM_004130.4:c.879+16A>G
NG_027677.1:g.40111A>G
More... 		12/01/2021 intron variant likely benign GLYCOGENIN DEFICIENCY; GSD XV; Polyglucosan body myopathy type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GYG1
Accession:NM_004130
Location:INTRON

Gene Symbol:GYG1
Accession:NM_001184720
Location:INTRON

Gene Symbol:GYG1
Accession:NM_001184721
Location:INTRON

Gene Symbol:GYG1
Accession:XM_017006275
Location:INTRON

Gene Symbol:GYG1
Accession:XM_017006276
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002084577 CLINVAR
dbSNP (RS) rs2107924455 CLINVAR
MedGen C3150754 CLINVAR
NCBI Gene GYG1 CLINVAR
OMIM 603942 CLINVAR
  613507 CLINVAR
  616199 CLINVAR