RGD:150441181 Rat Genome Database

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Variant: RGD:150441181 -  Homo sapiens

RGD ID: 150441181
RS ID: rs114544456
ClinVar ID: CV1204514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 64,096,047
GRCh38 1 63,630,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016966.1:g.42101A>G
NC_000001.11:g.63630376A>G
NC_000001.10:g.64096047A>G
NM_001172819.2:c.-36+288A>G
More... 		09/17/2018 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 RCV001583620 CLINVAR
dbSNP (RS) rs114544456 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR