RGD:11656298 Rat Genome Database

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Variant: RGD:11656298 -  Homo sapiens

RGD ID: 11656298
RS ID: rs886045349
ClinVar ID: CV277496
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 155,260,012
GRCh38 1 155,290,221
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
NG_011677.1:g.16214T>A
NC_000001.11:g.155290221A>T
NC_000001.10:g.155260012A>T
NM_181871.4:c.*351T>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy 1-9 / 100 000 PK deficiency; Pyruvate kinase deficiency; PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency of erythrocytes; Pyruvate kinase deficiency, Amish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:XM_047422591
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:XM_047422592
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:XM_006711386
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:NM_000298
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:NM_181871
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:XM_011509640
Location:3UTRS;EXON

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000332463 CLINVAR
dbSNP (RS) rs886045349 CLINVAR
MedGen C0340968 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 266200 CLINVAR
  609712 CLINVAR