RGD:12844672 Rat Genome Database

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Variant: RGD:12844672 -  Homo sapiens

RGD ID: 12844672
RS ID: rs143470567
ClinVar ID: CV365348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 64,124,739
GRCh38 1 63,659,068
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.70793C>T
NC_000001.11:g.63659068C>T
NC_000001.10:g.64124739C>T
NM_001172819.2:c.1009-518C>T
More... 		02/16/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_001172818
Location:INTRON

Gene Symbol:PGM1
Accession:NM_001172819
Location:INTRON

Gene Symbol:PGM1
Accession:NM_002633
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000438412 CLINVAR
dbSNP (RS) rs143470567 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR