RGD:150446644 Rat Genome Database

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Variant: RGD:150446644 -  Homo sapiens

RGD ID: 150446644
RS ID: rs11208264
ClinVar ID: CV1232133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 64,125,072
GRCh38 1 63,659,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172819.2:c.1009-185T>C
NM_002633.3:c.1600-185T>C
NM_001172818.1:c.1654-185T>C
NG_016966.1:g.71126T>C
More... 		06/26/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_002633
Location:INTRON

Gene Symbol:PGM1
Accession:NM_001172818
Location:INTRON

Gene Symbol:PGM1
Accession:NM_001172819
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001646041 CLINVAR
dbSNP (RS) rs11208264 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR