RGD:14730225 Rat Genome Database

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Variant: RGD:14730225 -  Homo sapiens

RGD ID: 14730225
RS ID: rs855313
ClinVar ID: CV657947
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 64,095,042
GRCh38 1 63,629,371
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.247-54G>T
NM_001172818.1:c.301-54G>T
NG_016966.1:g.41096G>T
NC_000001.11:g.63629371G>T
More... 		06/16/2018 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 RCV000835575 CLINVAR
dbSNP (RS) rs855313 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR