RGD:150418714 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150418714 -  Homo sapiens

RGD ID: 150418714
RS ID: rs146434036
ClinVar ID: CV1192893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 64,095,936
GRCh38 1 63,630,265
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.-36+177G>A
NM_002633.3:c.556+177G>A
NM_001172818.1:c.610+177G>A
NG_016966.1:g.41990G>A
More...
03/31/2020 intron variant likely 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 RCV001569347 CLINVAR
dbSNP (RS) rs146434036 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR