RGD:15182742 Rat Genome Database

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Variant: RGD:15182742 -  Homo sapiens

RGD ID: 15182742
RS ID: rs1466615308
ClinVar ID: CV779628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PYGL  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 51,375,677
GRCh38 14 50,908,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001163940.2:c.2076-4A>C
NM_002863.5:c.2178-4A>C
NG_012796.1:g.40572A>C
NC_000014.9:g.50908959T>G
More... 		02/27/2018 intron variant likely benign none provided

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974707 CLINVAR
dbSNP (RS) rs1466615308 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PYGL CLINVAR
OMIM 613741 CLINVAR