RGD:11605751 Rat Genome Database

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Variant: RGD:11605751 -  Homo sapiens

RGD ID: 11605751
RS ID: rs12306290
ClinVar ID: CV317279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PFKM  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 48,513,086
GRCh38 12 48,119,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001354743.2:c.-8-3464T>G
NM_001354742.2:c.-8-3464T>G
NM_001166686.2:c.206-3464T>G
NM_001354740.1:c.-24T>G
More... 		06/29/2018 5 prime utr variant benign childhood <1 / 1 000 000 Glycogen storage disease type 7; GSD VII; Muscle phosphofructokinase deficiency; none provided; Tarui disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PFKM
Accession:NM_001354740
Location:5UTRS;EXON

Gene Symbol:PFKM
Accession:XM_047429003
Location:5UTRS;EXON

Gene Symbol:PFKM
Accession:NM_001354743
Location:5UTRS;INTRON

Gene Symbol:PFKM
Accession:NM_001354747
Location:5UTRS;INTRON

Gene Symbol:PFKM
Accession:NM_001354742
Location:5UTRS;INTRON

Gene Symbol:PFKM
Accession:NM_001166688
Location:INTRON

Gene Symbol:PFKM
Accession:XM_011538487
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354745
Location:INTRON

Gene Symbol:PFKM
Accession:XM_047429002
Location:INTRON

Gene Symbol:PFKM
Accession:XM_024449020
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354746
Location:INTRON

Gene Symbol:PFKM
Accession:XM_005268974
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354736
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354735
Location:INTRON

Gene Symbol:PFKM
Accession:NM_000289
Location:INTRON

Gene Symbol:PFKM
Accession:XM_047429004
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001166686
Location:INTRON

Gene Symbol:PFKM
Accession:XM_005268976
Location:INTRON

Gene Symbol:PFKM
Accession:XM_047429001
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354741
Location:INTRON

Gene Symbol:PFKM
Accession:XM_024449021
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001166687
Location:INTRON

Gene Symbol:PFKM
Accession:XM_017019469
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001363619
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354738
Location:INTRON

Gene Symbol:PFKM
Accession:XM_024449022
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354739
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354744
Location:INTRON

Gene Symbol:PFKM
Accession:XM_047428999
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354748
Location:INTRON

Gene Symbol:PFKM
Accession:XM_047429000
Location:INTRON

Gene Symbol:PFKM
Accession:NM_001354737
Location:INTRON

Gene Symbol:PFKM
Accession:NR_148959
Location:INTRON;NON-CODING

Gene Symbol:PFKM
Accession:NR_148958
Location:INTRON;NON-CODING

Gene Symbol:PFKM
Accession:NR_148957
Location:INTRON;NON-CODING

Gene Symbol:PFKM
Accession:NR_148955
Location:INTRON;NON-CODING

Gene Symbol:PFKM
Accession:NR_148954
Location:INTRON;NON-CODING

Gene Symbol:PFKM
Accession:NR_148956
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000323145 CLINVAR
  RCV001612979 CLINVAR
dbSNP (RS) rs12306290 CLINVAR
MedGen C0017926 CLINVAR
  C3661900 CLINVAR
NCBI Gene PFKM CLINVAR
OMIM 232800 CLINVAR
  610681 CLINVAR
SNOMED CT 89597008 CLINVAR