RGD:127286900 Rat Genome Database

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Variant: RGD:127286900 -  Homo sapiens

RGD ID: 127286900
RS ID: rs2148202138
ClinVar ID: CV1151810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 155,263,156
GRCh38 1 155,293,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.155293365T>A
NC_000001.10:g.155263156T>A
NM_000298.5:c.1270-22A>T
LRG_1136t1:c.1270-22A>T
More... 		01/05/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:NM_000298
Location:INTRON

Gene Symbol:PKLR
Accession:XM_011509640
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422592
Location:INTRON

Gene Symbol:PKLR
Accession:NM_181871
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422591
Location:INTRON

Gene Symbol:PKLR
Accession:XM_006711386
Location:INTRON

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001507462 CLINVAR
dbSNP (RS) rs2148202138 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 609712 CLINVAR