RGD:21405571 Rat Genome Database

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Variant: RGD:21405571 -  Homo sapiens

RGD ID: 21405571
RS ID: rs1572057140
ClinVar ID: CV799121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 155,265,227
GRCh38 1 155,295,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.155265227C>T
LRG_1136t1:c.507+1G>A
NM_181871.4:c.414+1G>A
NM_000298.6:c.507+1G>A
More... 		09/21/2018 splice donor variant pathogenic AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:NM_000298
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

Gene Symbol:PKLR
Accession:XM_047422592
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 RCV001000766 CLINVAR
dbSNP (RS) rs1572057140 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 609712 CLINVAR