RGD:21406111 Rat Genome Database

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Variant: RGD:21406111 -  Homo sapiens

RGD ID: 21406111
RS ID: rs1448381947
ClinVar ID: CV799126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 155,270,072
GRCh38 1 155,300,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1136t1:c.101-1G>A
NC_000001.11:g.155300281C>T
NG_011677.1:g.6154G>A
NM_000298.6:c.101-1G>A
More... 		08/02/2018 splice acceptor variant pathogenic AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:XM_011509640
Location:5UTRS;INTRON

Gene Symbol:PKLR
Accession:XM_006711386
Location:5UTRS;INTRON

Gene Symbol:PKLR
Accession:NM_181871
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422592
Location:INTRON

Gene Symbol:PKLR
Accession:NM_000298
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422591
Location:INTRON

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8180378   PMID:15953013   PMID:16199547   PMID:26832193   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001002001 CLINVAR
  RCV003558627 CLINVAR
dbSNP (RS) rs1448381947 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 609712 CLINVAR