RGD:150508319 Rat Genome Database

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Variant: RGD:150508319 -  Homo sapiens

RGD ID: 150508319
RS ID: rs139938560
ClinVar ID: CV1214013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 64,120,459
GRCh38 1 63,654,788
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.1008+322A>G
NM_002633.3:c.1599+322A>G
NM_001172818.1:c.1653+322A>G
NG_016966.1:g.66513A>G
More... 		06/26/2018 intron variant likely 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 RCV001596534 CLINVAR
dbSNP (RS) rs139938560 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR