RGD:150506730 Rat Genome Database

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Variant: RGD:150506730 -  Homo sapiens

RGD ID: 150506730
RS ID: rs3762272
ClinVar ID: CV1242285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 155,261,777
GRCh38 1 155,291,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1136t1:c.1437-49G>A
NM_181871.4:c.1344-49G>A
NM_000298.6:c.1437-49G>A
LRG_1136:g.14449G>A
More... 		11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:XM_006711386
Location:INTRON

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422591
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422592
Location:INTRON

Gene Symbol:PKLR
Accession:NM_000298
Location:INTRON

Gene Symbol:PKLR
Accession:NM_181871
Location:INTRON

Gene Symbol:PKLR
Accession:XM_011509640
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001658640 CLINVAR
dbSNP (RS) rs3762272 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 609712 CLINVAR