RGD:11587124 Rat Genome Database

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Variant: RGD:11587124 -  Homo sapiens

RGD ID: 11587124
RS ID: rs879040355
ClinVar ID: CV277390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 155,260,021
GRCh38 1 155,290,230
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
LRG_1136t1:c.*342C>T
NM_000298.6:c.*342C>T
NM_000298.5:c.*342C>T
NG_011677.1:g.16205C>T
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_006711386
Location:3UTRS;EXON

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

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

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

Gene Symbol:PKLR
Accession:XM_047422591
Location:3UTRS;EXON

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

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292686 CLINVAR
dbSNP (RS) rs879040355 CLINVAR
MedGen C0340968 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 266200 CLINVAR
  609712 CLINVAR