RGD:150447459 Rat Genome Database

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Variant: RGD:150447459 -  Homo sapiens

RGD ID: 150447459
RS ID: rs113848886
ClinVar ID: CV1201892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 64,059,725
GRCh38 1 63,594,054
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.-436G>C
NM_002633.3:c.246+320G>C
NG_016966.1:g.5779G>C
NC_000001.11:g.63594054G>C
More...
07/27/2018 5 prime utr variant likely benign none provided

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

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 RCV001584761 CLINVAR
dbSNP (RS) rs113848886 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR