RGD:14721573 Rat Genome Database

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Variant: RGD:14721573 -  Homo sapiens

RGD ID: 14721573
RS ID: rs72920859
ClinVar ID: CV657939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 64,088,651
GRCh38 1 63,622,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002633.3:c.247-6445A>G
NG_016966.1:g.34705A>G
NC_000001.11:g.63622980A>G
NC_000001.10:g.64088651A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_001172819
Location:5UTRS;INTRON

Gene Symbol:PGM1
Accession:NM_002633
Location:INTRON

Gene Symbol:PGM1
Accession:NM_001172818
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831731 CLINVAR
dbSNP (RS) rs72920859 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR